A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6234083



Internal ID9211486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61254566..61257187hg38UCSC Ensembl
Outerchr17:61254529..61257237hg38UCSC Ensembl
Innerchr17:59331927..59334548hg19UCSC Ensembl
Outerchr17:59331890..59334598hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382709
hg192709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664239
Supporting Variants
SamplesNA18636
Known GenesBCAS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6234083
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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