A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34532



Internal ID12643883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50983931..51460659hg38UCSC Ensembl
Innerchr15:51276128..51752856hg19UCSC Ensembl
Innerchr15:49063420..49540148hg18UCSC Ensembl
Innerchr15:49063420..49540148hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38476729
hg19476729
hg18476729
hg17476729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978321, essv6978322, essv6978323, essv6986594, essv6986593
SamplesNA19000
Known GenesAP4E1, CYP19A1, DMXL2, GLDN, MIR4713, TNFAIP8L3
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)esv34532
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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