A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752007



Internal ID12638873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25192..175961hg38UCSC Ensembl
Innerchr3:66866..217644hg19UCSC Ensembl
Innerchr3:41866..192644hg18UCSC Ensembl
Innerchr3:41866..192644hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38150770
hg19150779
hg18150779
hg17150779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983398, essv6983399, essv6986424, essv6983397
SamplesBEC_647
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)esv2752007
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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