A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669785



Internal ID9935890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:34139552..34143721hg38UCSC Ensembl
Outerchr17:34139515..34143771hg38UCSC Ensembl
Innerchr17:32466571..32470740hg19UCSC Ensembl
Outerchr17:32466534..32470790hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384257
hg194257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5759466
SamplesHG00280
Known GenesASIC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669785
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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