A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751555



Internal ID12638421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27517859..27708985hg38UCSC Ensembl
Innerchr16:27529180..27720306hg19UCSC Ensembl
Innerchr16:27436681..27627807hg18UCSC Ensembl
Innerchr16:27436681..27627807hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38191127
hg19191127
hg18191127
hg17191127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983810, essv6987424, essv6983809, essv6983808
SamplesBEC_629
Known GenesGTF3C1, KIAA0556
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)esv2751555
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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