A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588510



Internal ID6975927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198034469..198037893hg38UCSC Ensembl
Innerchr1:198034469..198037893hg38UCSC Ensembl
Outerchr1:198034161..198038180hg38UCSC Ensembl
chr1:198003599..198007023hg19UCSC Ensembl
Innerchr1:198003599..198007023hg19UCSC Ensembl
Outerchr1:198003291..198007310hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383425
hg193425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10256412, essv10256428, essv10256423, essv10256410, essv10256418, essv10256421, essv10256433, essv10256407, essv10256404, essv10256414, essv10256429, essv10256431, essv10256409, essv10256422, essv10256408, essv10256427, essv10256420, essv10256415, essv10256419, essv10256425, essv10256424, essv10256432, essv10256413, essv10256430, essv10256417, essv10256416, essv10256426, essv10256403, essv10256406, essv10256411, essv10256405
SamplesNA20511, HG00096, HG02652, NA20514, NA20531, HG02012, NA12004, HG04156, HG00337, HG00641, HG01070, NA19764, HG01083, HG01893, HG01398, HG01170, NA20764, NA20753, HG00282, NA20770, HG01161, HG01182, HG01075, NA20799, HG04025, NA20530, HG03846, HG01770, NA20503, HG04161, HG01437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588510
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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