A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979007



Internal ID12632786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16485220..17030820hg38UCSC Ensembl
Innerchr8:16342729..16888329hg19UCSC Ensembl
Innerchr8:16387100..16932700hg18UCSC Ensembl
Innerchr8:16387100..16932700hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38545601
hg19545601
hg18545601
hg17545601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34322
Supporting Variants
SamplesNA12814
Known GenesFGF20, MICU3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979007
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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