A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986908



Internal ID12633787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74249059..74815072hg38UCSC Ensembl
Innerchr11:73960104..74526117hg19UCSC Ensembl
Innerchr11:73637752..74203765hg18UCSC Ensembl
Innerchr11:73637752..74203765hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38566014
hg19566014
hg18566014
hg17566014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34979
Supporting Variants
SamplesNA18582
Known GenesCHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986908
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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