A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752060



Internal ID12985612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129382408..129504408hg38UCSC Ensembl
Innerchr5:128718101..128840101hg19UCSC Ensembl
Innerchr5:128746000..128868000hg18UCSC Ensembl
Innerchr5:128746000..128868000hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38122001
hg19122001
hg18122001
hg17122001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985256, essv6985255, essv6987194
SamplesSPC_13
Known GenesADAMTS19, MIR4460
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752060
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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