A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984827



Internal ID12636892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9918982..10311482hg38UCSC Ensembl
Innerchr4:9920606..10313106hg19UCSC Ensembl
Innerchr4:9529704..9922204hg18UCSC Ensembl
Innerchr4:9596875..9989375hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38392501
hg19392501
hg18392501
hg17392501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752052
Supporting Variants
SamplesSPC_181
Known GenesMIR3138, SLC2A9, WDR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984827
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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