A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670839



Internal ID9590258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38086067..38087603hg38UCSC Ensembl
Outerchr20:38086030..38087653hg38UCSC Ensembl
Innerchr20:36714469..36716005hg19UCSC Ensembl
Outerchr20:36714432..36716055hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6209164
SamplesNA18597
Known GenesRPRD1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670839
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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