A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6291076



Internal ID8760486
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 Flag1
Merged StatusS
Merged Variantsesv2675692
Supporting Variants
SamplesHG00151
Known GenesCASC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6291076
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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