A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751983



Internal ID12985535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176789401..176965646hg38UCSC Ensembl
Innerchr3:176507189..176683434hg19UCSC Ensembl
Innerchr3:177989883..178166128hg18UCSC Ensembl
Innerchr3:177989891..178166136hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38176246
hg19176246
hg18176246
hg17176246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987655, essv6984706, essv6984705, essv6988838
SamplesSPC_167
Known Genes
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)esv2751983
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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