esv3835157

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:24
Validation:Not tested
Clinical Assertions: No
Region Size:13,987

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: 179 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):53,201,962-53,215,948

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3835157	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
esv3835157	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	54,068,129	54,082,115

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18843383	copy number loss	HG01880	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797
essv18843384	copy number loss	HG02642	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,234
essv18843385	copy number loss	HG02769	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,837
essv18843386	copy number loss	HG02888	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv18843387	copy number loss	HG02944	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,095
essv18843388	copy number loss	HG02952	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,836
essv18843389	copy number loss	HG03057	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,087
essv18843390	copy number loss	HG03072	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,943
essv18843391	copy number loss	HG03088	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,411
essv18843392	copy number loss	HG03096	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,144
essv18843393	copy number loss	HG03202	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,283
essv18843394	copy number loss	HG03445	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,052
essv18843395	copy number loss	HG03449	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,493
essv18843396	copy number loss	HG03484	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,960
essv18843397	copy number loss	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv18843398	copy number loss	NA18853	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,000
essv18843399	copy number loss	NA18874	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,245
essv18843400	copy number loss	NA18881	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,996
essv18843401	copy number loss	NA18909	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,010
essv18843402	copy number loss	NA18987	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,150
essv18843403	copy number loss	NA19144	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,589
essv18843404	copy number loss	NA19206	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295
essv18843405	copy number loss	NA20346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv18843406	copy number gain	HG01847	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,298

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18843383	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843384	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843385	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843386	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843387	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843388	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843389	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843390	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843391	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843392	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843393	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843394	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843395	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843396	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843397	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843398	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843399	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843400	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843401	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843402	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843403	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843404	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843405	Remapped	Perfect	NC_000004.12:g.532 01962_53215948del	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843406	Remapped	Perfect	NC_000004.12:g.532 01962_53215948dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	53,201,962	53,215,948
essv18843383	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843384	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843385	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843386	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843387	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843388	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843389	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843390	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843391	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843392	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843393	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843394	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843395	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843396	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843397	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843398	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843399	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843400	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843401	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843402	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843403	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843404	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843405	Submitted genomic		NC_000004.11:g.540 68129_54082115del	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115
essv18843406	Submitted genomic		NC_000004.11:g.540 68129_54082115dup	GRCh37 (hg19)		NC_000004.11	Chr4	54,068,129	54,082,115

dbVar

Database of genomic structural variation

esv3835157

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.