A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676466



Internal ID4720800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79788916..79794222hg19UCSC Ensembl
Outerchr10:79788545..79794592hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
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
Method
Analysis
Platform
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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