A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752052



Internal ID12638918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9910248..10311487hg38UCSC Ensembl
Innerchr4:9911872..10313111hg19UCSC Ensembl
Innerchr4:9520970..9922209hg18UCSC Ensembl
Innerchr4:9588141..9989380hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38401240
hg19401240
hg18401240
hg17401240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984827, essv6988855, essv6984829, essv6984826, essv6984828
SamplesSPC_181
Known GenesMIR3138, SLC2A9, WDR1
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)esv2752052
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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