A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984579



Internal ID12977219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116182185..116184054hg38UCSC Ensembl
Innerchr3:115901032..115902901hg19UCSC Ensembl
Innerchr3:117383722..117385591hg18UCSC Ensembl
Innerchr3:117383722..117385591hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381870
hg191870
hg181870
hg171870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751976
Supporting Variants
SamplesBEC_720
Known GenesLSAMP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984579
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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