A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674729



Internal ID9594148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74824758..74830964hg38UCSC Ensembl
Outerchr10:74824387..74831334hg38UCSC Ensembl
Innerchr10:76584516..76590722hg19UCSC Ensembl
Outerchr10:76584145..76591092hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386948
hg196948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5973979, essv6460880, essv5982941, essv5776888, essv5474458, essv5542244, essv6433203, essv6087892, essv6017649, essv6107297, essv6343829, essv5678944, essv5866087, essv5817250, essv6385852, essv5543228, essv6182711, essv5470219, essv6246459, essv6229749, essv6367438, essv5782571, essv5870125, essv5864276, essv5862079, essv6553559, essv5766077, essv5859231, essv6238961, essv6495880, essv6251032, essv6442297, essv6314547, essv6135671, essv6448922, essv5866726, essv5966853
SamplesHG00323, HG00309, HG00313, HG00344, HG00328, HG00274, HG00310, HG00326, HG00187, HG00280, HG00335, HG00331, HG00319, HG00353, HG00269, HG00342, HG00266, HG00321, HG00339, HG00346, HG00179, HG00337, HG00338, HG00284, HG00343, HG00268, HG00325, HG00185, HG00176, HG00273, HG00329, HG00181, HG00285, HG00320, HG00324, HG00336, HG00345
Known GenesKAT6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674729
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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