A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554925



Internal ID18756001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83038876..83038986hg38UCSC Ensembl
Outerchr17:83038858..83038994hg38UCSC Ensembl
Innerchr17:80996752..80996862hg19UCSC Ensembl
Outerchr17:80996734..80996870hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753672
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554925
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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