A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35058



Internal ID12644408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91115235..91206548hg38UCSC Ensembl
Innerchr8:92127463..92218776hg19UCSC Ensembl
Innerchr8:92196639..92287952hg18UCSC Ensembl
Innerchr8:92196639..92287952hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3891314
hg1991314
hg1891314
hg1791314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980074, essv6988307
SamplesNA18948
Known GenesLRRC69, MIR4661
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)esv35058
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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