A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675000



Internal ID9941105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56442005..56443558hg38UCSC Ensembl
chr20:55017061..55018614hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381554
hg191554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5517372, essv6365073, essv5997010, essv6017330, essv5762067, essv6195186, essv6422460, essv6214804, essv5574438, essv5785479, essv6256062, essv6387554, essv5937730, essv6285488, essv6501188, essv5822447, essv6096178, essv6011962, essv5550793, essv5525701, essv6283251, essv6588884
SamplesNA18486, HG01465, NA20294, NA19446, NA19138, NA19238, NA19445, NA19985, NA19451, NA19175, NA19462, NA19455, NA18516, HG00740, NA18907, NA19453, NA19225, NA19428, HG01342, NA19213, NA18511, NA18522
Known GenesCASS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675000
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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