A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664163



Internal ID9583582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39131207..39133604hg38UCSC Ensembl
Outerchr17:39131170..39133654hg38UCSC Ensembl
Innerchr17:37287460..37289857hg19UCSC Ensembl
Outerchr17:37287423..37289907hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382485
hg192485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6377982
SamplesNA18632
Known GenesPLXDC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664163
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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