A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34563



Internal ID12643914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175919787..176330713hg38UCSC Ensembl
Innerchr5:175346790..175757716hg19UCSC Ensembl
Innerchr5:175279396..175690322hg18UCSC Ensembl
Innerchr5:175279396..175690322hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38410927
hg19410927
hg18410927
hg17410927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986615, essv6978433
SamplesNA19098
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1, THOC3
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)esv34563
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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