A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6268737



Internal ID9435660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48866997..48872373hg38UCSC Ensembl
Outerchr17:48866840..48872526hg38UCSC Ensembl
Innerchr17:46944359..46949735hg19UCSC Ensembl
Outerchr17:46944202..46949888hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385687
hg195687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666128
Supporting Variants
SamplesNA18635
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6268737
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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