A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553599



Internal ID18407989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67479925..67480212hg38UCSC Ensembl
Outerchr16:67479889..67480258hg38UCSC Ensembl
Innerchr16:67513828..67514115hg19UCSC Ensembl
Outerchr16:67513792..67514161hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752346
Samples
Known GenesATP6V0D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553599
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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