esv2661167

Organism: Homo sapiens

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

Variant Calls:22
Validation:Yes
Clinical Assertions: No
Region Size:8,783

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: 319 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):20,419,583-20,428,365

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2661167	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
esv2661167	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	20,419,692	20,428,474

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5414915	deletion	SAMN00001150	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,706
essv5676495	deletion	SAMN00007814	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,162
essv5733784	deletion	SAMN00001588	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,394
essv5749521	deletion	SAMN00001684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv5814019	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv5849730	deletion	SAMN00001174	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,500
essv5864110	deletion	SAMN00007744	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,376
essv5880442	deletion	SAMN00001129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,603
essv5924198	deletion	SAMN00001149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv5926749	deletion	SAMN00001160	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv5998998	deletion	SAMN00000474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,357
essv6056022	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv6080056	deletion	SAMN00001579	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,501
essv6089191	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv6111930	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv6132932	deletion	SAMN00001627	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,454
essv6235998	deletion	SAMN00000573	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,195
essv6270041	deletion	SAMN00001109	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	966
essv6278918	deletion	SAMN00001253	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	912
essv6285751	deletion	SAMN00007817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,168
essv6415556	deletion	SAMN00001168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv6421904	deletion	SAMN00001189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,771

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5414915	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5676495	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5733784	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5749521	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5814019	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5849730	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5864110	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5880442	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5924198	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5926749	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5998998	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6056022	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6080056	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6089191	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6111930	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6132932	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6235998	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6270041	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6278918	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6285751	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6415556	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv6421904	Remapped	Perfect	NC_000005.10:g.204 19583_20428365delC	GRCh38.p12	First Pass	NC_000005.10	Chr5	20,419,583	20,428,365
essv5414915	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5676495	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5733784	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5749521	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5814019	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5849730	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5864110	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5880442	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5924198	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5926749	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv5998998	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6056022	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6080056	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6089191	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6111930	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6132932	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6235998	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6270041	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6278918	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6285751	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6415556	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474
essv6421904	Submitted genomic		NC_000005.9:g.2041 9692_20428474delC	GRCh37 (hg19)		NC_000005.9	Chr5	20,419,692	20,428,474

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5998998	9	SAMN00000474	Oligo aCGH	Probe signal intensity	Pass
essv5814019	9	SAMN00000555	Oligo aCGH	Probe signal intensity	Pass
essv6235998	9	SAMN00000573	Oligo aCGH	Probe signal intensity	Pass
essv6270041	9	SAMN00001109	Oligo aCGH	Probe signal intensity	Pass
essv6111930	9	SAMN00001127	Oligo aCGH	Probe signal intensity	Pass
essv5880442	9	SAMN00001129	Oligo aCGH	Probe signal intensity	Pass
essv5924198	9	SAMN00001149	Oligo aCGH	Probe signal intensity	Pass
essv5414915	9	SAMN00001150	Oligo aCGH	Probe signal intensity	Pass
essv5926749	9	SAMN00001160	Oligo aCGH	Probe signal intensity	Pass
essv6415556	9	SAMN00001168	Oligo aCGH	Probe signal intensity	Pass
essv5849730	9	SAMN00001174	Oligo aCGH	Probe signal intensity	Pass
essv6421904	9	SAMN00001189	Oligo aCGH	Probe signal intensity	Pass
essv6278918	9	SAMN00001253	Oligo aCGH	Probe signal intensity	Pass
essv6080056	9	SAMN00001579	Oligo aCGH	Probe signal intensity	Pass
essv5733784	9	SAMN00001588	Oligo aCGH	Probe signal intensity	Pass
essv6089191	9	SAMN00001591	Oligo aCGH	Probe signal intensity	Pass
essv6056022	9	SAMN00001624	Oligo aCGH	Probe signal intensity	Pass
essv6132932	9	SAMN00001627	Oligo aCGH	Probe signal intensity	Pass
essv5749521	9	SAMN00001684	Oligo aCGH	Probe signal intensity	Pass
essv5864110	9	SAMN00007744	Oligo aCGH	Probe signal intensity	Pass
essv5676495	9	SAMN00007814	Oligo aCGH	Probe signal intensity	Pass
essv6285751	9	SAMN00007817	Oligo aCGH	Probe signal intensity	Pass
essv5998998	7	SAMN00000474	SNP array	Probe signal intensity	Pass
essv5814019	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv6235998	7	SAMN00000573	SNP array	Probe signal intensity	Pass
essv6270041	7	SAMN00001109	SNP array	Probe signal intensity	Pass
essv6111930	7	SAMN00001127	SNP array	Probe signal intensity	Pass
essv5880442	7	SAMN00001129	SNP array	Probe signal intensity	Pass
essv5924198	7	SAMN00001149	SNP array	Probe signal intensity	Pass
essv5414915	7	SAMN00001150	SNP array	Probe signal intensity	Pass
essv5926749	7	SAMN00001160	SNP array	Probe signal intensity	Pass
essv6415556	7	SAMN00001168	SNP array	Probe signal intensity	Pass
essv5849730	7	SAMN00001174	SNP array	Probe signal intensity	Pass
essv6421904	7	SAMN00001189	SNP array	Probe signal intensity	Pass
essv6278918	7	SAMN00001253	SNP array	Probe signal intensity	Pass
essv6080056	7	SAMN00001579	SNP array	Probe signal intensity	Pass
essv5733784	7	SAMN00001588	SNP array	Probe signal intensity	Pass
essv6089191	7	SAMN00001591	SNP array	Probe signal intensity	Pass
essv6056022	7	SAMN00001624	SNP array	Probe signal intensity	Pass
essv6132932	7	SAMN00001627	SNP array	Probe signal intensity	Pass
essv5749521	7	SAMN00001684	SNP array	Probe signal intensity	Pass
essv5864110	7	SAMN00007744	SNP array	Probe signal intensity	Pass
essv5676495	7	SAMN00007814	SNP array	Probe signal intensity	Pass
essv6285751	7	SAMN00007817	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2661167

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