A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592592



Internal ID6979919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136213319..136214979hg38UCSC Ensembl
Innerchr2:136213326..136214973hg38UCSC Ensembl
Outerchr2:136213313..136214986hg38UCSC Ensembl
chr2:136970889..136972549hg19UCSC Ensembl
Innerchr2:136970896..136972543hg19UCSC Ensembl
Outerchr2:136970883..136972556hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381661
hg191661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10684171, essv10684176, essv10684182, essv10684172, essv10684179, essv10684174, essv10684181, essv10684178, essv10684175, essv10684177, essv10684180, essv10684170, essv10684173
SamplesNA19394, HG03130, NA19462, HG01948, HG02555, NA18907, HG02896, NA19440, NA19390, HG03432, HG03410, HG02051, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592592
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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