A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990158



Internal ID12984160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5160662..5432422hg38UCSC Ensembl
Innerchr4:5162389..5434149hg19UCSC Ensembl
Innerchr4:5213290..5485050hg18UCSC Ensembl
Innerchr4:5280461..5552221hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38271761
hg19271761
hg18271761
hg17271761
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)essv6990158
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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