A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554919



Internal ID18755995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82958818..82958880hg38UCSC Ensembl
chr17:80916694..80916756hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753666
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554919
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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