esv2664407

Organism: Homo sapiens

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

Variant Calls:27
Validation:Yes
Clinical Assertions: No
Region Size:12,479

Description:High quality site
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: 934 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):17,639,132-17,651,610

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2664407	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
esv2664407	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	17,639,241	17,651,719

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5427324	deletion	SAMN00001619	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,363
essv5438971	deletion	SAMN00006562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv5489189	deletion	SAMN00006514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,671
essv5494735	deletion	SAMN00006571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,708
essv5586823	deletion	SAMN00006475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,638
essv5599666	deletion	SAMN00006559	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv5655176	deletion	SAMN00004689	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,655
essv5741705	deletion	SAMN00000426	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,680
essv5846717	deletion	SAMN00000923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015
essv5866559	deletion	SAMN00006469	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,602
essv5922302	deletion	SAMN00000433	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,612
essv5932746	deletion	SAMN00006456	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,686
essv5950801	deletion	SAMN00006552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv5967499	deletion	SAMN00004690	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,700
essv6024688	deletion	SAMN00000437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6100087	deletion	SAMN00001620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,235
essv6170819	deletion	SAMN00006505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,623
essv6178567	deletion	SAMN00004696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,778
essv6187419	deletion	SAMN00006510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,195
essv6195644	deletion	SAMN00001613	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,540
essv6206771	deletion	SAMN00006555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,653
essv6208943	deletion	SAMN00000455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv6246754	deletion	SAMN00001029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,237
essv6264361	deletion	SAMN00006480	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,600
essv6328663	deletion	SAMN00006549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,666
essv6370342	deletion	SAMN00000439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,142
essv6425699	deletion	SAMN00006472	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,467

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5427324	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5438971	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5489189	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5494735	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5586823	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5599666	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5655176	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5741705	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5846717	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5866559	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5922302	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5932746	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5950801	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5967499	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6024688	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6100087	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6170819	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6178567	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6187419	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6195644	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6206771	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6208943	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6246754	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6264361	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6328663	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6370342	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv6425699	Remapped	Perfect	NC_000005.10:g.176 39132_17651610delA C	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,639,132	17,651,610
essv5427324	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5438971	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5489189	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5494735	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5586823	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5599666	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5655176	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5741705	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5846717	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5866559	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5922302	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5932746	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5950801	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv5967499	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6024688	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6100087	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6170819	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6178567	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6187419	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6195644	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6206771	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6208943	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6246754	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6264361	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6328663	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6370342	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719
essv6425699	Submitted genomic		NC_000005.9:g.1763 9241_17651719delAC	GRCh37 (hg19)		NC_000005.9	Chr5	17,639,241	17,651,719

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5741705	9	SAMN00000426	Oligo aCGH	Probe signal intensity	Pass
essv5922302	9	SAMN00000433	Oligo aCGH	Probe signal intensity	Pass
essv6024688	9	SAMN00000437	Oligo aCGH	Probe signal intensity	Pass
essv6370342	9	SAMN00000439	Oligo aCGH	Probe signal intensity	Pass
essv6208943	9	SAMN00000455	Oligo aCGH	Probe signal intensity	Pass
essv5846717	9	SAMN00000923	Oligo aCGH	Probe signal intensity	Pass
essv6246754	9	SAMN00001029	Oligo aCGH	Probe signal intensity	Pass
essv6195644	9	SAMN00001613	Oligo aCGH	Probe signal intensity	Pass
essv5427324	9	SAMN00001619	Oligo aCGH	Probe signal intensity	Pass
essv6100087	9	SAMN00001620	Oligo aCGH	Probe signal intensity	Pass
essv5655176	9	SAMN00004689	Oligo aCGH	Probe signal intensity	Pass
essv5967499	9	SAMN00004690	Oligo aCGH	Probe signal intensity	Pass
essv6178567	9	SAMN00004696	Oligo aCGH	Probe signal intensity	Pass
essv5932746	9	SAMN00006456	Oligo aCGH	Probe signal intensity	Pass
essv5866559	9	SAMN00006469	Oligo aCGH	Probe signal intensity	Pass
essv6425699	9	SAMN00006472	Oligo aCGH	Probe signal intensity	Pass
essv5586823	9	SAMN00006475	Oligo aCGH	Probe signal intensity	Pass
essv6264361	9	SAMN00006480	Oligo aCGH	Probe signal intensity	Pass
essv6170819	9	SAMN00006505	Oligo aCGH	Probe signal intensity	Pass
essv6187419	9	SAMN00006510	Oligo aCGH	Probe signal intensity	Pass
essv5489189	9	SAMN00006514	Oligo aCGH	Probe signal intensity	Pass
essv6328663	9	SAMN00006549	Oligo aCGH	Probe signal intensity	Pass
essv5950801	9	SAMN00006552	Oligo aCGH	Probe signal intensity	Pass
essv6206771	9	SAMN00006555	Oligo aCGH	Probe signal intensity	Pass
essv5599666	9	SAMN00006559	Oligo aCGH	Probe signal intensity	Pass
essv5438971	9	SAMN00006562	Oligo aCGH	Probe signal intensity	Pass
essv5494735	9	SAMN00006571	Oligo aCGH	Probe signal intensity	Pass
essv5741705	7	SAMN00000426	SNP array	Probe signal intensity	Pass
essv5922302	7	SAMN00000433	SNP array	Probe signal intensity	Pass
essv6024688	7	SAMN00000437	SNP array	Probe signal intensity	Pass
essv6370342	7	SAMN00000439	SNP array	Probe signal intensity	Pass
essv6208943	7	SAMN00000455	SNP array	Probe signal intensity	Pass
essv5846717	7	SAMN00000923	SNP array	Probe signal intensity	Pass
essv6246754	7	SAMN00001029	SNP array	Probe signal intensity	Pass
essv6195644	7	SAMN00001613	SNP array	Probe signal intensity	Pass
essv5427324	7	SAMN00001619	SNP array	Probe signal intensity	Pass
essv6100087	7	SAMN00001620	SNP array	Probe signal intensity	Pass
essv5655176	7	SAMN00004689	SNP array	Probe signal intensity	Pass
essv5967499	7	SAMN00004690	SNP array	Probe signal intensity	Pass
essv6178567	7	SAMN00004696	SNP array	Probe signal intensity	Pass
essv5932746	7	SAMN00006456	SNP array	Probe signal intensity	Pass
essv5866559	7	SAMN00006469	SNP array	Probe signal intensity	Pass
essv6425699	7	SAMN00006472	SNP array	Probe signal intensity	Pass
essv5586823	7	SAMN00006475	SNP array	Probe signal intensity	Pass
essv6264361	7	SAMN00006480	SNP array	Probe signal intensity	Pass
essv6170819	7	SAMN00006505	SNP array	Probe signal intensity	Pass
essv6187419	7	SAMN00006510	SNP array	Probe signal intensity	Pass
essv5489189	7	SAMN00006514	SNP array	Probe signal intensity	Pass
essv6328663	7	SAMN00006549	SNP array	Probe signal intensity	Pass
essv5950801	7	SAMN00006552	SNP array	Probe signal intensity	Pass
essv6206771	7	SAMN00006555	SNP array	Probe signal intensity	Pass
essv5599666	7	SAMN00006559	SNP array	Probe signal intensity	Pass
essv5438971	7	SAMN00006562	SNP array	Probe signal intensity	Pass
essv5494735	7	SAMN00006571	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2664407

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