A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553791



Internal ID18408181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83637309..83643300hg38UCSC Ensembl
Outerchr16:83637200..83643421hg38UCSC Ensembl
Innerchr16:83670914..83676905hg19UCSC Ensembl
Outerchr16:83670805..83677026hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386222
hg196222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752538
Samples
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553791
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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