A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751608



Internal ID12638474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4119388..4238922hg38UCSC Ensembl
Innerchr16:4169389..4288923hg19UCSC Ensembl
Innerchr16:4109390..4228924hg18UCSC Ensembl
Innerchr16:4109390..4228924hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38119535
hg19119535
hg18119535
hg17119535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988487, essv6982057, essv6986073, essv6982056, essv6982058
SamplesBEC_516
Known GenesSRL
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)esv2751608
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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