A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554920



Internal ID18755996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83022504..83023208hg38UCSC Ensembl
Outerchr17:83022313..83023315hg38UCSC Ensembl
Innerchr17:80980380..80981084hg19UCSC Ensembl
Outerchr17:80980189..80981191hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753667
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554920
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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