A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670157



Internal ID9589576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64252473..64257254hg38UCSC Ensembl
chr2:64479607..64484388hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384782
hg194782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6316657, essv5670708, essv5851767, essv5420458, essv6233673, essv5766502, essv6578384, essv5725276, essv5640942, essv5626024, essv6309273, essv6144314, essv6502140, essv5805138, essv5428947, essv5528680, essv5433063, essv6274535, essv6544504, essv6576135, essv6184808, essv5992197, essv6199035, essv6053541, essv6396857, essv6325498, essv6072568, essv5562348, essv5768784, essv6054546, essv5958698, essv6519037, essv6137909, essv6210527, essv5515960, essv5731315, essv6564011, essv5985842, essv6466007, essv6011511, essv6078053, essv5665594, essv6507931, essv5642449, essv5923351, essv6215685, essv6569050, essv6122750, essv6036692
SamplesHG00152, HG01353, NA18630, HG00418, HG00500, HG01083, HG00596, HG00428, HG00375, HG00173, NA12058, HG00334, NA18963, HG00280, HG00335, HG00366, HG00177, HG00342, HG00543, NA18559, NA19085, HG01140, NA18622, NA12273, HG00315, HG00330, HG00178, HG00419, NA19681, NA19663, HG00343, HG00176, HG00260, NA18941, HG00273, HG01170, HG01351, HG00589, HG01137, NA18597, HG00443, NA18565, HG00663, HG00118, HG00448, HG00367, HG00278, HG01354, HG00361
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670157
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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