A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660315



Internal ID9926420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62922811..62923060hg38UCSC Ensembl
chr1:63388482..63388731hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6401676, essv6399004, essv5570067, essv5858504, essv6393638, essv5620004, essv5449667, essv6047016, essv5514623, essv5683866, essv6153866, essv5575658, essv5595311, essv6323029, essv6137312, essv5428344, essv5860813, essv5932244, essv6350128, essv5409963, essv6036537, essv5872787, essv5935418, essv6583980, essv5475074, essv5918470, essv6363714, essv6026384, essv5713140, essv5511035, essv5937189, essv5541387, essv5771499, essv6438520, essv5984141, essv6264620, essv6448372, essv5959748, essv5741808, essv6085820, essv6218500, essv6415540
SamplesNA19394, HG00114, NA19701, NA18924, NA19399, NA19350, NA19092, NA18870, NA19379, NA19319, NA19448, NA19384, NA19383, NA19372, NA19235, NA19317, NA19901, NA18908, NA18867, NA19455, NA19982, NA18856, NA19225, NA19395, HG01107, NA19436, NA19401, NA19375, NA19435, NA19380, NA19835, NA19311, NA19360, NA19376, NA19328, NA19472, NA19468, NA18488, HG01125, NA18511, NA19429, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660315
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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