A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751616



Internal ID12638482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82681091..82818691hg38UCSC Ensembl
Innerchr16:82714696..82852296hg19UCSC Ensembl
Innerchr16:81272197..81409797hg18UCSC Ensembl
Innerchr16:81272197..81409797hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38137601
hg19137601
hg18137601
hg17137601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981238, essv6981237, essv6981239
SamplesBEC_371
Known GenesCDH13, MIR8058
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751616
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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