A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986219



Internal ID12628615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187119697..187554697hg38UCSC Ensembl
Innerchr4:188040851..188475851hg19UCSC Ensembl
Innerchr4:188277845..188712845hg18UCSC Ensembl
Innerchr4:188416000..188851000hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38435001
hg19435001
hg18435001
hg17435001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752041
Supporting Variants
SamplesBEC_573
Known GenesLOC339975
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986219
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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