A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675692



Internal ID9941797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40143832..40146704hg38UCSC Ensembl
Outerchr17:40143795..40146754hg38UCSC Ensembl
Innerchr17:38300085..38302957hg19UCSC Ensembl
Outerchr17:38300048..38303007hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg382960
hg192960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6291076, essv5434297, essv5669120
SamplesHG00151, HG00311, NA12272
Known GenesCASC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675692
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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