esv2657156

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:50
Validation:Yes
Clinical Assertions: No
Region Size:13,948

Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 609 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):22,280,625-22,294,572

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2657156	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
esv2657156	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
esv2657156	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	23,652,945	23,653,316	23,666,522	23,666,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5423496	deletion	SAMN00000446	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,545
essv5432575	deletion	SAMN00001605	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,150
essv5474150	deletion	SAMN00000454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,020
essv5493725	deletion	SAMN00001603	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,445
essv5504431	deletion	SAMN00001618	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,316
essv5520749	deletion	SAMN00000423	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,491
essv5575390	deletion	SAMN00001600	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv5643031	deletion	SAMN00000452	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,154
essv5644262	deletion	SAMN00000439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,142
essv5681234	deletion	SAMN00000453	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	917
essv5782633	deletion	SAMN00001622	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,501
essv5786015	deletion	SAMN00000434	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,579
essv5798686	deletion	SAMN00000450	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	976
essv5806313	deletion	SAMN00001594	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,441
essv5810918	deletion	SAMN00001601	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv5826556	deletion	SAMN00001621	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,225
essv5862887	deletion	SAMN00000432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,561
essv5865870	deletion	SAMN00000459	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,590
essv5892243	deletion	SAMN00000926	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,337
essv5965512	deletion	SAMN00000418	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,714
essv5974391	deletion	SAMN00001607	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,399
essv5993349	deletion	SAMN00000445	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,439
essv5994646	deletion	SAMN00000925	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,217
essv5996775	deletion	SAMN00000431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,496
essv6023694	deletion	SAMN00000442	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,006
essv6038857	deletion	SAMN00001611	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,237
essv6070877	deletion	SAMN00000430	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,528
essv6071959	deletion	SAMN00000440	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,197
essv6075426	deletion	SAMN00000424	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,563
essv6106071	deletion	SAMN00000447	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,578
essv6110609	deletion	SAMN00000419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,634
essv6121320	deletion	SAMN00000922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv6124297	deletion	SAMN00000438	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,635
essv6147965	deletion	SAMN00001610	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,385
essv6187416	deletion	SAMN00000455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv6221217	deletion	SAMN00000420	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,470
essv6244137	deletion	SAMN00000457	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,165
essv6271030	deletion	SAMN00001616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,254
essv6288688	deletion	SAMN00001613	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,540
essv6313017	deletion	SAMN00000427	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,692
essv6316896	deletion	SAMN00000923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015
essv6316995	deletion	SAMN00001599	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,516
essv6317025	deletion	SAMN00000927	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,263
essv6338880	deletion	SAMN00001596	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,369
essv6383260	deletion	SAMN00000931	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,215
essv6405268	deletion	SAMN00001602	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,302
essv6408374	deletion	SAMN00000429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,527
essv6435451	deletion	SAMN00001593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,157
essv6564499	deletion	SAMN00000433	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,612
essv6566991	deletion	SAMN00000448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,188

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5423496	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5432575	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5474150	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5493725	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5504431	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5520749	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5575390	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5643031	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5644262	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5681234	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5782633	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5786015	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5798686	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5806313	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5810918	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5826556	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5862887	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5865870	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5892243	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5965512	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5974391	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5993349	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5994646	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5996775	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6023694	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6038857	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6070877	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6071959	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6075426	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6106071	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6110609	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6121320	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6124297	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6147965	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6187416	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6221217	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6244137	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6271030	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6288688	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6313017	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6316896	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6316995	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6317025	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6338880	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6383260	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6405268	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6408374	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6435451	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6564499	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv6566991	Remapped	Perfect	NW_003315968.2:g.( 184854_185225)_(19 8431_198801)del	GRCh38.p12	Second Pass	NW_003315968.2	Chr21\|NW_0 03315968.2	184,854	185,225	198,431	198,801
essv5423496	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5432575	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5474150	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5493725	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5504431	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5520749	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5575390	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5643031	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5644262	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5681234	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5782633	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5786015	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5798686	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5806313	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5810918	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5826556	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5862887	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5865870	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5892243	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5965512	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5974391	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5993349	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5994646	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv5996775	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6023694	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6038857	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6070877	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6071959	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6075426	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6106071	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6110609	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6121320	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6124297	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6147965	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6187416	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6221217	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6244137	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6271030	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6288688	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6313017	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6316896	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6316995	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6317025	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6338880	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6383260	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6405268	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6408374	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6435451	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6564499	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572
essv6566991	Remapped	Perfect	NC_000021.9:g.(222 80625_22280996)_(2 2294202_22294572)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	22,280,625	22,280,996	22,294,202	22,294,572

Showing 100 of 150

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5965512	7	SAMN00000418	SNP array	Probe signal intensity	Pass
essv6110609	7	SAMN00000419	SNP array	Probe signal intensity	Pass
essv6221217	7	SAMN00000420	SNP array	Probe signal intensity	Pass
essv5520749	7	SAMN00000423	SNP array	Probe signal intensity	Pass
essv6075426	7	SAMN00000424	SNP array	Probe signal intensity	Pass
essv6313017	7	SAMN00000427	SNP array	Probe signal intensity	Pass
essv6408374	7	SAMN00000429	SNP array	Probe signal intensity	Pass
essv6070877	7	SAMN00000430	SNP array	Probe signal intensity	Pass
essv5996775	7	SAMN00000431	SNP array	Probe signal intensity	Pass
essv5862887	7	SAMN00000432	SNP array	Probe signal intensity	Pass
essv6564499	7	SAMN00000433	SNP array	Probe signal intensity	Pass
essv5786015	7	SAMN00000434	SNP array	Probe signal intensity	Pass
essv6124297	7	SAMN00000438	SNP array	Probe signal intensity	Pass
essv5644262	7	SAMN00000439	SNP array	Probe signal intensity	Pass
essv6071959	7	SAMN00000440	SNP array	Probe signal intensity	Pass
essv6023694	7	SAMN00000442	SNP array	Probe signal intensity	Pass
essv5993349	7	SAMN00000445	SNP array	Probe signal intensity	Pass
essv5423496	7	SAMN00000446	SNP array	Probe signal intensity	Pass
essv6106071	7	SAMN00000447	SNP array	Probe signal intensity	Pass
essv6566991	7	SAMN00000448	SNP array	Probe signal intensity	Pass
essv5798686	7	SAMN00000450	SNP array	Probe signal intensity	Pass
essv5643031	7	SAMN00000452	SNP array	Probe signal intensity	Pass
essv5681234	7	SAMN00000453	SNP array	Probe signal intensity	Pass
essv5474150	7	SAMN00000454	SNP array	Probe signal intensity	Pass
essv6187416	7	SAMN00000455	SNP array	Probe signal intensity	Pass
essv6244137	7	SAMN00000457	SNP array	Probe signal intensity	Pass
essv5865870	7	SAMN00000459	SNP array	Probe signal intensity	Pass
essv6121320	7	SAMN00000922	SNP array	Probe signal intensity	Pass
essv6316896	7	SAMN00000923	SNP array	Probe signal intensity	Pass
essv5994646	7	SAMN00000925	SNP array	Probe signal intensity	Pass
essv5892243	7	SAMN00000926	SNP array	Probe signal intensity	Pass
essv6317025	7	SAMN00000927	SNP array	Probe signal intensity	Pass
essv6383260	7	SAMN00000931	SNP array	Probe signal intensity	Pass
essv6435451	7	SAMN00001593	SNP array	Probe signal intensity	Pass
essv5806313	7	SAMN00001594	SNP array	Probe signal intensity	Pass
essv6338880	7	SAMN00001596	SNP array	Probe signal intensity	Pass
essv6316995	7	SAMN00001599	SNP array	Probe signal intensity	Pass
essv5575390	7	SAMN00001600	SNP array	Probe signal intensity	Pass
essv5810918	7	SAMN00001601	SNP array	Probe signal intensity	Pass
essv6405268	7	SAMN00001602	SNP array	Probe signal intensity	Pass
essv5493725	7	SAMN00001603	SNP array	Probe signal intensity	Pass
essv5432575	7	SAMN00001605	SNP array	Probe signal intensity	Pass
essv5974391	7	SAMN00001607	SNP array	Probe signal intensity	Pass
essv6147965	7	SAMN00001610	SNP array	Probe signal intensity	Pass
essv6038857	7	SAMN00001611	SNP array	Probe signal intensity	Pass
essv6288688	7	SAMN00001613	SNP array	Probe signal intensity	Pass
essv6271030	7	SAMN00001616	SNP array	Probe signal intensity	Pass
essv5504431	7	SAMN00001618	SNP array	Probe signal intensity	Pass
essv5826556	7	SAMN00001621	SNP array	Probe signal intensity	Pass
essv5782633	7	SAMN00001622	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2657156

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant