A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662852



Internal ID9928957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18997495..18998223hg38UCSC Ensembl
chr20:18978139..18978867hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5967207, essv6103193, essv5407044, essv5676190, essv5616972, essv5882572, essv6496988, essv5926939, essv6189856, essv5960580, essv5657631, essv5832464, essv6099395, essv6298527
SamplesNA18507, NA18870, NA19374, NA19448, NA19235, NA19901, NA19456, NA18908, NA19451, NA19707, NA19391, NA18856, NA19428, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662852
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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