A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676466



Internal ID2909553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:78029158..78034464hg38UCSC Ensembl
Outerchr10:78028787..78034834hg38UCSC Ensembl
Innerchr10:79788916..79794222hg19UCSC Ensembl
Outerchr10:79788545..79794592hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6324554, essv6064518, essv6570787, essv6448378, essv5505917, essv5904252, essv6413972, essv5759250, essv6477347, essv6499006, essv5714648, essv5465178, essv5800317, essv5496324, essv6117858, essv5569429, essv6498428, essv6153044, essv6479682, essv5782103, essv5549178, essv6140173, essv6537666, essv5422649, essv6449371, essv5726621, essv6084596, essv6067932, essv5486683, essv6358911, essv5831520, essv6547634, essv6431574, essv5434043, essv5754749, essv6447404, essv6228832, essv6594081, essv5769596, essv5569887, essv6444223, essv6115563, essv5623100, essv6305504, essv6542469, essv6545676, essv5432436, essv6397315, essv6073880
SamplesHG00323, HG00309, HG00313, HG00318, HG00344, HG00328, HG00274, HG00186, HG00173, HG00326, HG00270, HG00280, HG00366, HG00177, HG00331, HG00342, HG00266, HG00321, HG00339, HG00346, HG00179, HG00337, HG00180, HG00315, HG00330, HG00338, HG00178, HG00284, HG00343, HG00373, HG00325, HG00185, HG00176, HG00273, HG00282, HG00277, HG00329, HG00181, HG00281, HG00285, HG00320, HG00275, HG00324, HG00183, HG00336, HG00271, HG00278, HG00327, HG00361
Known GenesPOLR3A, RPS24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676466
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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