A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35031



Internal ID12991067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130999179..131461222hg38UCSC Ensembl
Innerchr4:131920334..132382377hg19UCSC Ensembl
Innerchr4:132139784..132601827hg18UCSC Ensembl
Innerchr4:132277939..132739982hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38462044
hg19462044
hg18462044
hg17462044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188e55
Supporting Variantsessv6978842, essv6978844, essv6986725, essv6990292, essv6978843
SamplesNA12740
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)esv35031
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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