A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665273



Internal ID9931378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5207929..5209031hg38UCSC Ensembl
chr10:5249892..5250994hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5568522, essv6488328, essv5877636, essv5857092, essv6455901, essv6422438, essv6508878, essv6277553, essv6089165, essv6008799, essv6242395, essv5806741, essv6368513, essv5634903, essv6508003, essv5953240, essv5825730, essv5920054, essv6021193, essv5862796, essv5556935, essv6007485, essv6277852, essv5966347, essv6310519, essv5790656, essv5737695, essv5643259, essv6281699, essv5426218, essv6140201, essv5638479, essv5828732
SamplesNA19701, HG01462, NA19204, NA18508, NA18917, NA19359, NA19190, NA19098, NA19374, NA19373, NA18923, NA19131, NA18916, NA19384, NA19471, NA18908, NA19452, NA19225, NA19395, NA19401, NA18909, NA19147, NA19434, NA19439, NA19818, NA19398, NA19472, NA19223, NA19213, NA19129, NA18488, NA19312, NA07000
Known GenesAKR1C4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665273
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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