A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986953



Internal ID12980775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:160943243..161000243hg38UCSC Ensembl
Innerchr4:161864395..161921395hg19UCSC Ensembl
Innerchr4:162083845..162140845hg18UCSC Ensembl
Innerchr4:162222000..162279000hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3857001
hg1957001
hg1857001
hg1757001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34806
Supporting Variants
SamplesNA18633
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986953
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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