A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664318



Internal ID9930423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54235434..54236068hg38UCSC Ensembl
Outerchr17:54235397..54236118hg38UCSC Ensembl
Innerchr17:52312795..52313429hg19UCSC Ensembl
Outerchr17:52312758..52313479hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6434310
SamplesNA19010
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664318
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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