A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554921



Internal ID18755997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83025225..83025540hg38UCSC Ensembl
Outerchr17:83025140..83025636hg38UCSC Ensembl
Innerchr17:80983101..80983416hg19UCSC Ensembl
Outerchr17:80983016..80983512hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv193e215
Supporting Variantsessv9753668
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554921
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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