A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34659



Internal ID12644009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150858366..152860232hg38UCSC Ensembl
Innerchr2:151714880..153716746hg19UCSC Ensembl
Innerchr2:151423126..153424992hg18UCSC Ensembl
Innerchr2:151540388..153542254hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg382001867
hg192001867
hg182001867
hg172001867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980512, essv6980511, essv6980508, essv6987803, essv6989180, essv6987802, essv6980509, essv6980510
SamplesNA19203
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, MIR4773-1, MIR4773-2, NEB, NMI, PRPF40A, RBM43, RIF1, STAM2, TNFAIP6
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)esv34659
Frequency
Sample Size771
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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