A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660269



Internal ID9579688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66823284..66825790hg38UCSC Ensembl
Outerchr13:66822913..66826160hg38UCSC Ensembl
Innerchr13:67397416..67399922hg19UCSC Ensembl
Outerchr13:67397045..67400292hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6585862, essv5902529, essv5599529, essv6050012, essv6178031, essv6353015, essv6054723, essv5617534, essv5682423, essv6334204, essv6367677, essv5654110, essv6111904, essv5633137, essv5442858, essv5782050, essv6137608, essv5698313, essv5561428, essv5480286, essv5801411, essv5923944, essv5515791, essv6463574, essv5557623, essv6464075, essv5886254, essv6270497, essv6125463, essv5718371, essv5486917, essv5519164, essv6478045, essv6508833, essv5511341, essv6121466, essv5458428, essv6293370, essv6037978, essv6030284, essv6246225, essv5894444, essv5451449, essv6516950, essv5437828, essv6337826, essv5397856, essv5553710, essv6593098, essv6276073
SamplesHG00361, HG00187, HG00315, HG00306, HG00318, HG00337, HG00327, HG00271, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00325, HG00309, HG00182, HG00326, HG00313, HG00188, HG00268, HG00328, HG00190, HG00368, HG00320, HG00344, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00357, HG00278, HG00319, HG00312, HG00329, HG00310, HG00186, HG00280, HG00343, HG00372, HG00274, HG00171
Known GenesPCDH9, PCDH9-AS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660269
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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