A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658925



Internal ID9925030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99268779..99275985hg38UCSC Ensembl
Outerchr14:99268408..99276355hg38UCSC Ensembl
Innerchr14:99735116..99742322hg19UCSC Ensembl
Outerchr14:99734745..99742692hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387948
hg197948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5776318, essv5590199, essv6589263, essv5460818, essv6183306, essv6477398, essv5943390, essv5861826, essv6236940, essv5938353, essv5973713, essv6249725, essv5980071, essv5949477, essv6155795, essv5883900, essv5842527, essv6066681, essv5496649, essv5723762, essv5930344, essv6118923, essv5996508, essv6308178, essv6362498, essv6314341, essv5988448, essv5856204, essv6234604, essv6016414, essv6151624, essv6182135, essv6304268, essv5622765, essv6555555, essv6476012, essv6240559, essv5485331, essv6583697, essv5551844, essv6036107, essv5815842, essv5446468, essv5599419, essv6194769, essv6490092, essv5778287, essv6202399, essv6222883, essv5738816, essv5768015, essv6303692, essv6089000, essv6566323, essv5532677, essv5926173, essv6213666
SamplesHG00189, HG00315, HG00318, HG00181, HG00327, HG00271, HG00272, HG00346, HG00369, HG00270, HG00334, HG00185, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00268, HG00266, HG00282, HG00328, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00180
Known GenesBCL11B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658925
Frequency
Sample Size1151
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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