esv2674705

Organism: Homo sapiens

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

Variant Calls:19
Validation:Yes
Clinical Assertions: No
Region Size:12,720

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: 939 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):17,637,597-17,650,316

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
esv2674705	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
esv2674705	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5446950	deletion	SAMN00006552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv5492590	deletion	SAMN00004689	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,655
essv5547238	deletion	SAMN00006472	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,467
essv5702295	deletion	SAMN00001620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,235
essv5805732	deletion	SAMN00006549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,666
essv5869554	deletion	SAMN00006480	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,600
essv5892613	deletion	SAMN00006475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,638
essv5944771	deletion	SAMN00007814	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,162
essv6082761	deletion	SAMN00006514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,671
essv6099041	deletion	SAMN00006571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,708
essv6182012	deletion	SAMN00000455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv6308488	deletion	SAMN00000433	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,612
essv6350677	deletion	SAMN00006469	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,602
essv6351171	deletion	SAMN00006456	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,686
essv6390785	deletion	SAMN00004696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,778
essv6406470	deletion	SAMN00001029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,237
essv6474915	deletion	SAMN00004690	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,700
essv6576254	deletion	SAMN00000437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6586093	deletion	SAMN00000923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5446950	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5492590	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5547238	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5702295	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5805732	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5869554	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5892613	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5944771	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6082761	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6099041	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6182012	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6308488	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6350677	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6351171	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6390785	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6406470	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6474915	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6576254	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv6586093	Remapped	Perfect	NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del	GRCh38.p12	First Pass	NC_000005.10	Chr5	17,637,597	17,637,754	17,650,163	17,650,316
essv5446950	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5492590	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5547238	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5702295	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5805732	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5869554	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5892613	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv5944771	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6082761	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6099041	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6182012	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6308488	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6350677	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6351171	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6390785	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6406470	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6474915	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6576254	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425
essv6586093	Submitted genomic		NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el	GRCh37 (hg19)		NC_000005.9	Chr5	17,637,706	17,637,863	17,650,272	17,650,425

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6308488	9	SAMN00000433	Oligo aCGH	Probe signal intensity	Pass
essv6576254	9	SAMN00000437	Oligo aCGH	Probe signal intensity	Pass
essv6182012	9	SAMN00000455	Oligo aCGH	Probe signal intensity	Pass
essv6586093	9	SAMN00000923	Oligo aCGH	Probe signal intensity	Pass
essv6406470	9	SAMN00001029	Oligo aCGH	Probe signal intensity	Pass
essv5702295	9	SAMN00001620	Oligo aCGH	Probe signal intensity	Pass
essv5492590	9	SAMN00004689	Oligo aCGH	Probe signal intensity	Pass
essv6474915	9	SAMN00004690	Oligo aCGH	Probe signal intensity	Pass
essv6390785	9	SAMN00004696	Oligo aCGH	Probe signal intensity	Pass
essv6351171	9	SAMN00006456	Oligo aCGH	Probe signal intensity	Pass
essv6350677	9	SAMN00006469	Oligo aCGH	Probe signal intensity	Pass
essv5547238	9	SAMN00006472	Oligo aCGH	Probe signal intensity	Pass
essv5892613	9	SAMN00006475	Oligo aCGH	Probe signal intensity	Pass
essv5869554	9	SAMN00006480	Oligo aCGH	Probe signal intensity	Pass
essv6082761	9	SAMN00006514	Oligo aCGH	Probe signal intensity	Pass
essv5805732	9	SAMN00006549	Oligo aCGH	Probe signal intensity	Pass
essv5446950	9	SAMN00006552	Oligo aCGH	Probe signal intensity	Pass
essv6099041	9	SAMN00006571	Oligo aCGH	Probe signal intensity	Pass
essv5944771	9	SAMN00007814	Oligo aCGH	Probe signal intensity	Pass
essv6308488	7	SAMN00000433	SNP array	Probe signal intensity	Pass
essv6576254	7	SAMN00000437	SNP array	Probe signal intensity	Pass
essv6182012	7	SAMN00000455	SNP array	Probe signal intensity	Pass
essv6586093	7	SAMN00000923	SNP array	Probe signal intensity	Pass
essv6406470	7	SAMN00001029	SNP array	Probe signal intensity	Pass
essv5702295	7	SAMN00001620	SNP array	Probe signal intensity	Pass
essv5492590	7	SAMN00004689	SNP array	Probe signal intensity	Pass
essv6474915	7	SAMN00004690	SNP array	Probe signal intensity	Pass
essv6390785	7	SAMN00004696	SNP array	Probe signal intensity	Pass
essv6351171	7	SAMN00006456	SNP array	Probe signal intensity	Pass
essv6350677	7	SAMN00006469	SNP array	Probe signal intensity	Pass
essv5547238	7	SAMN00006472	SNP array	Probe signal intensity	Pass
essv5892613	7	SAMN00006475	SNP array	Probe signal intensity	Pass
essv5869554	7	SAMN00006480	SNP array	Probe signal intensity	Pass
essv6082761	7	SAMN00006514	SNP array	Probe signal intensity	Pass
essv5805732	7	SAMN00006549	SNP array	Probe signal intensity	Pass
essv5446950	7	SAMN00006552	SNP array	Probe signal intensity	Pass
essv6099041	7	SAMN00006571	SNP array	Probe signal intensity	Pass
essv5944771	7	SAMN00007814	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2674705

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