A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984828



Internal ID12983579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9934287..10310597hg38UCSC Ensembl
Innerchr4:9935911..10312221hg19UCSC Ensembl
Innerchr4:9545009..9921319hg18UCSC Ensembl
Innerchr4:9612180..9988490hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38376311
hg19376311
hg18376311
hg17376311
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984828
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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