A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666503



Internal ID9932608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45864735..45866176hg38UCSC Ensembl
chr20:44493374..44494815hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381442
hg191442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6119689, essv5482856, essv6395392, essv5761505, essv5690882, essv6293044, essv6040952, essv6589798, essv6274168, essv5858355, essv5850845, essv5812523, essv5828249, essv5715284, essv6591859, essv6116542, essv6484073, essv5410082, essv5815843, essv5548869, essv5902047, essv6305187, essv5934419, essv6475836, essv5576086, essv5522862, essv5544833, essv6243388, essv5510356, essv6562817, essv5684034, essv5676379, essv5660523, essv6405527
SamplesHG01060, NA19058, NA19909, NA19350, NA19092, NA19819, NA18870, NA18988, NA18960, NA11918, NA19130, NA11932, NA19172, NA18867, NA12748, NA19007, NA10847, NA19707, NA12829, NA18553, NA18541, NA19712, NA18950, NA07051, HG00111, HG00421, NA19713, NA19474, HG00123, NA19900, NA18983, NA19661, NA18488, NA19676
Known GenesZSWIM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666503
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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