A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983002



Internal ID12627969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188140510..188284510hg38UCSC Ensembl
Innerchr3:187858298..188002298hg19UCSC Ensembl
Innerchr3:189340992..189484992hg18UCSC Ensembl
Innerchr3:189341000..189485000hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38144001
hg19144001
hg18144001
hg17144001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751987
Supporting Variants
SamplesBEC_532
Known GenesFLJ42393, LPP, LPP-AS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983002
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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