A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751576



Internal ID12985128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35207424..35499505hg38UCSC Ensembl
Innerchr16:34441795..34733876hg19UCSC Ensembl
Innerchr16:34299296..34591377hg18UCSC Ensembl
Innerchr16:34299296..34591377hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38292082
hg19292082
hg18292082
hg17292082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6986433, essv6988669
SamplesBEC_652
Known GenesLOC146481, LOC283914
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)esv2751576
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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