A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986711



Internal ID12979133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57273706..57703906hg38UCSC Ensembl
Innerchr4:58139872..58570072hg19UCSC Ensembl
Innerchr4:57834629..58264829hg18UCSC Ensembl
Innerchr4:57980800..58411000hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38430201
hg19430201
hg18430201
hg17430201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34933
Supporting Variants
SamplesNA12264
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986711
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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