A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34472



Internal ID12990510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42273163..42349988hg38UCSC Ensembl
Innerchr3:42314655..42391480hg19UCSC Ensembl
Innerchr3:42289659..42366484hg18UCSC Ensembl
Innerchr3:42289659..42366484hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3876826
hg1976826
hg1876826
hg1776826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980424, essv6980425, essv6987790
SamplesNA19171
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)esv34472
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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