A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986766



Internal ID12632762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16485208..16995257hg38UCSC Ensembl
Innerchr8:16342717..16852766hg19UCSC Ensembl
Innerchr8:16387088..16897137hg18UCSC Ensembl
Innerchr8:16387088..16897137hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38510050
hg19510050
hg18510050
hg17510050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34322
Supporting Variants
SamplesNA12814
Known GenesFGF20
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986766
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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