A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752000



Internal ID12985552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:3381814..3670556hg38UCSC Ensembl
Innerchr3:3423498..3712240hg19UCSC Ensembl
Innerchr3:3398498..3687240hg18UCSC Ensembl
Innerchr3:3398498..3687240hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38288743
hg19288743
hg18288743
hg17288743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981023, essv6981022, essv6981021, essv6988345
SamplesBEC_337
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)esv2752000
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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