A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985861



Internal ID12984150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5160662..5408775hg38UCSC Ensembl
Innerchr4:5162389..5410502hg19UCSC Ensembl
Innerchr4:5213290..5461403hg18UCSC Ensembl
Innerchr4:5280461..5528574hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38248114
hg19248114
hg18248114
hg17248114
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)essv6985861
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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