esv3821556

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:218,433

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 1303 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):189,358,063-189,576,495

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3821556	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
esv3821556	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,327,193	189,545,625

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17369930	deletion	HG00566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,182
essv17369931	deletion	HG00663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,261
essv17369932	deletion	HG00672	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,259
essv17369933	deletion	HG00689	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,593
essv17369934	deletion	HG01597	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,447
essv17369935	deletion	HG01796	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv17369936	deletion	HG01808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv17369937	deletion	HG01811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17369938	deletion	HG02113	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,108
essv17369939	deletion	HG02139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,185
essv17369940	deletion	HG02367	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,628
essv17369941	deletion	HG02373	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,694
essv17369942	deletion	HG02397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,636
essv17369943	deletion	HG02407	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv17369944	deletion	NA18552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,215
essv17369945	deletion	NA18562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv17369946	deletion	NA18967	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,106
essv17369947	deletion	NA18975	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,236
essv17369948	deletion	NA18981	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17369930	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369931	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369932	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369933	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369934	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369935	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369936	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369937	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369938	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369939	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369940	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369941	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369942	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369943	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369944	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369945	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369946	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369947	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369948	Remapped	Perfect	NC_000001.11:g.189 358063_189576495de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,063	189,576,495
essv17369930	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369931	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369932	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369933	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369934	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369935	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369936	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369937	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369938	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369939	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369940	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369941	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369942	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369943	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369944	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369945	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369946	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369947	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625
essv17369948	Submitted genomic		NC_000001.10:g.189 327193_189545625de l	GRCh37 (hg19)		NC_000001.10	Chr1	189,327,193	189,545,625

dbVar

Database of genomic structural variation

esv3821556

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.