A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990217



Internal ID12981704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:685389..822008hg38UCSC Ensembl
Innerchr5:685504..822123hg19UCSC Ensembl
Innerchr5:738504..875123hg18UCSC Ensembl
Innerchr5:738504..875123hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38136620
hg19136620
hg18136620
hg17136620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34972
Supporting Variants
SamplesNA18995
Known GenesTPPP, ZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990217
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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