A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990387



Internal ID12633792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74230248..74822407hg38UCSC Ensembl
Innerchr11:73941293..74533452hg19UCSC Ensembl
Innerchr11:73618941..74211100hg18UCSC Ensembl
Innerchr11:73618941..74211100hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38592160
hg19592160
hg18592160
hg17592160
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990387
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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