A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662523



Internal ID9928628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18197351..18198516hg38UCSC Ensembl
chr20:18177995..18179160hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5888961, essv6291254, essv6157018, essv5487199, essv5883984, essv5689957, essv5589090
SamplesNA11920, HG00318, HG00253, NA12046, HG00186, HG00131, NA12154
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662523
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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