A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752025



Internal ID12985577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130974982..131492987hg38UCSC Ensembl
Innerchr4:131896137..132414142hg19UCSC Ensembl
Innerchr4:132115587..132633592hg18UCSC Ensembl
Innerchr4:132253742..132771747hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38518006
hg19518006
hg18518006
hg17518006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188e55
Supporting Variantsessv6988950, essv6985835, essv6985837, essv6987277, essv6985836
SamplesSPC_63
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)esv2752025
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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