A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675026



Internal ID9941131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81546418..81550514hg38UCSC Ensembl
chr3:81595569..81599665hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg384097
hg194097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504432, essv5944257, essv6417864, essv6409943, essv6415114, essv6067619, essv6370465, essv5744085, essv6348739, essv5946359, essv5574585, essv6392008, essv6320522, essv6256441, essv5806447, essv5706915, essv6048790, essv5764478, essv5523054, essv5482078, essv6132252, essv5846075, essv6257831, essv5642822, essv6573059, essv6354695, essv5929477, essv5855286, essv5806397, essv5843746, essv5881007, essv6372799
SamplesHG00142, NA11995, HG01052, HG01066, HG00177, NA20507, HG01350, HG01366, NA19916, HG00334, NA11932, HG00309, HG00253, NA20515, NA20755, HG00264, HG00260, NA20818, HG00266, HG00183, NA20787, HG01515, NA12827, HG00152, HG00246, NA19712, HG00366, NA20778, HG01055, NA11843, NA19661, NA07056
Known GenesGBE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675026
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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