Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3645849

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 Project Consortium et al. 2015

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
esv3645849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
esv3645849	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
essv16188549	copy number loss	SAMN00014362	Sequencing	Read depth and paired-end mapping	Heterozygous	2,890
essv16188550	copy number loss	SAMN00801051	Sequencing	Read depth and paired-end mapping	Heterozygous	2,792
essv16188551	copy number loss	SAMN00001548	Sequencing	Read depth and paired-end mapping	Heterozygous	2,766
essv16188552	copy number loss	SAMN00001179	Sequencing	Read depth and paired-end mapping	Heterozygous	3,049
essv16188553	copy number loss	SAMN00001223	Sequencing	Read depth and paired-end mapping	Homozygous	2,705
essv16188554	copy number loss	SAMN00001314	Sequencing	Read depth and paired-end mapping	Heterozygous	2,873
essv16188555	copy number gain	SAMN00262977	Sequencing	Read depth and paired-end mapping	Heterozygous	3,257

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16188549	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188550	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188551	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188552	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188553	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188554	Remapped	Perfect	NC_000020.11:g.417 66929_41986723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188555	Remapped	Perfect	NC_000020.11:g.417 66929_41986723dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	41,766,929	41,986,723
essv16188549	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188550	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188551	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188552	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188553	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188554	Submitted genomic		NC_000020.10:g.403 95569_40615363del	GRCh37 (hg19)		NC_000020.10	Chr20	40,395,569	40,615,363
essv16188555	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.

You are here: NCBI