A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656799



Internal ID9576218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3898151..3904536hg38UCSC Ensembl
chr20:3878798..3885183hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386386
hg196386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv776e199
Supporting Variantsessv6334184, essv5994379, essv5809203, essv6495892, essv6387445, essv5658787, essv5825782
SamplesHG01188, NA19684, NA19720, HG00268, NA19783, HG00312, NA19726
Known GenesPANK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656799
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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