A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979616



Internal ID12633804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74249107..74815107hg38UCSC Ensembl
Innerchr11:73960152..74526152hg19UCSC Ensembl
Innerchr11:73637800..74203800hg18UCSC Ensembl
Innerchr11:73637800..74203800hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38566001
hg19566001
hg18566001
hg17566001
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)essv6979616
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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