A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664066



Internal ID9930171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35581444..35585175hg38UCSC Ensembl
chr20:34169366..34173097hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383732
hg193732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6080519, essv5935028, essv5725279, essv5893584, essv5553829, essv5950040, essv5747485, essv5583215, essv5803732, essv5550208, essv6072992, essv6463400, essv6595562, essv5857626, essv5513422
SamplesHG00442, NA18947, NA18561, NA18545, HG00449, HG00590, NA18613, NA18956, HG00583, NA18630, NA18632, HG00476, NA19010, NA19004, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664066
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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