A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656484



Internal ID9922589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40901771..40908108hg38UCSC Ensembl
chr20:39530411..39536748hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg386338
hg196338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6302497, essv6314219, essv5603983, essv5971819, essv5615194, essv6340864, essv5850359, essv5424203, essv5663439, essv6481212, essv6516866, essv6316070, essv6584492, essv5952892, essv6037111, essv5652946, essv6157085, essv6445207, essv6031518, essv5720608, essv6079703, essv6358801, essv5419823, essv6408239
SamplesNA19394, NA19701, NA19909, NA19664, NA19704, NA19359, NA19377, NA18510, NA19384, NA19917, NA19372, NA19371, NA19921, NA19462, NA18871, HG00740, NA19375, NA19390, NA19108, NA18517, NA19818, NA19711, NA19430, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656484
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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