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dbVar

Database of genomic structural variation

esv3885471

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:7
Validation:Not tested
Clinical Assertions: No
Region Size:219,795

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: 543 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):41,766,929-41,986,723

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3885471	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
esv3885471	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	40,395,569	40,615,363

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24835061	copy number loss	HG01503	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,742
essv24835062	copy number loss	NA12004	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,405
essv24835063	copy number loss	NA12155	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,528
essv24835064	copy number loss	NA19454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv24835065	copy number variation	NA20503	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	3,285
essv24835066	copy number loss	NA20805	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,668
essv24835067	copy number gain	HG02053	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,221

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24835061	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835062	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835063	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835064	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835065	Remapped	Perfect		GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835066	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835067	Remapped	Perfect	NC_000020.11:g.417 66929_41986723dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv24835061	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835062	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835063	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835064	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835065	Submitted genomic			GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835066	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv24835067	Submitted genomic		NC_000020.10:g.403 95569_40615363dup	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363

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.

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