A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986615



Internal ID12635278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176145007..176187795hg38UCSC Ensembl
Innerchr5:175572010..175614798hg19UCSC Ensembl
Innerchr5:175504616..175547404hg18UCSC Ensembl
Innerchr5:175504616..175547404hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3842789
hg1942789
hg1842789
hg1742789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34563
Supporting Variants
SamplesNA19098
Known GenesLOC643201
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986615
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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