esv3848505

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:10
Validation:Not tested
Clinical Assertions: No
Region Size:53,289

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: 348 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):16,309,283-16,362,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848505	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
esv3848505	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20556259	deletion	HG00448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv20556260	deletion	HG00543	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv20556261	deletion	HG00560	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,157
essv20556262	deletion	HG00607	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,540
essv20556263	deletion	HG02187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,339
essv20556264	deletion	NA18558	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,586
essv20556265	deletion	NA18563	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,655
essv20556266	deletion	NA18574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,299
essv20556267	deletion	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv20556268	deletion	NA18635	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,651

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20556259	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556260	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556261	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556262	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556263	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556264	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556265	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556266	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556267	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556268	Remapped	Perfect	NC_000007.14:g.(16 309283_16309308)_( 16362571_16362596) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,309,295 (-12, +13)	16,362,583 (-12, +13)
essv20556259	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556260	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556261	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556262	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556263	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556264	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556265	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556266	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556267	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)
essv20556268	Submitted genomic		NC_000007.13:g.(16 348908_16348933)_( 16402196_16402221) del	GRCh37 (hg19)		NC_000007.13	Chr7	16,348,920 (-12, +13)	16,402,208 (-12, +13)

dbVar

Database of genomic structural variation

esv3848505

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.