A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751617



Internal ID12985169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:9545271..9660955hg38UCSC Ensembl
Innerchr16:9639128..9754812hg19UCSC Ensembl
Innerchr16:9546629..9662313hg18UCSC Ensembl
Innerchr16:9546629..9662313hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38115685
hg19115685
hg18115685
hg17115685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983296, essv6983294, essv6983297, essv6983295, essv6983298
SamplesBEC_636
Known GenesMIR7641-2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751617
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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