A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658431



Internal ID9924536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84054868..84055453hg38UCSC Ensembl
chr5:83350687..83351272hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546288, essv6567596, essv6096789, essv6228416, essv6245473, essv5591566, essv6320583, essv6013323, essv5559109, essv6141881, essv5775769, essv6463577, essv5725088, essv5659461, essv6465513, essv6454004, essv6323994, essv6235900, essv5832519, essv5876948, essv6113563, essv6377720, essv6262354, essv5504414, essv6421402, essv5552790, essv5979598, essv6583607, essv6312968, essv5830518, essv5438700, essv5554649, essv5957824, essv5454615, essv5525262, essv6213998, essv5614895, essv5982258, essv6276993, essv6299120, essv6550381, essv5436493
SamplesNA19394, NA19399, HG01374, HG00306, HG00699, NA19393, NA19446, HG00689, HG00448, NA19457, NA19383, NA19372, HG01048, NA20818, HG00543, HG00133, HG01136, HG00560, HG00282, HG00596, NA19077, NA19462, NA19455, NA19461, NA19449, NA20538, NA18963, HG00704, NA19395, HG01204, HG00254, NA18941, HG00638, NA19428, NA19467, HG00707, NA18987, HG00656, HG00595, NA19430, HG00553, HG00581
Known GenesEDIL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658431
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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