A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984826



Internal ID12636891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9910248..10310592hg38UCSC Ensembl
Innerchr4:9911872..10312216hg19UCSC Ensembl
Innerchr4:9520970..9921314hg18UCSC Ensembl
Innerchr4:9588141..9988485hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38400345
hg19400345
hg18400345
hg17400345
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)essv6984826
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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