A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980052



Internal ID12634500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189769791..189834486hg38UCSC Ensembl
Innerchr4:190690945..190755641hg19UCSC Ensembl
Innerchr4:190927939..190992635hg18UCSC Ensembl
Innerchr4:191066094..191130790hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3864696
hg1964697
hg1864697
hg1764697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34388
Supporting Variants
SamplesNA18945
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980052
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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