A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985860



Internal ID12984149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5160661..5408771hg38UCSC Ensembl
Innerchr4:5162388..5410498hg19UCSC Ensembl
Innerchr4:5213289..5461399hg18UCSC Ensembl
Innerchr4:5280460..5528570hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38248111
hg19248111
hg18248111
hg17248111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752049
Supporting Variants
SamplesSPC_7
Known GenesSTK32B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985860
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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