A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983001



Internal ID12627970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188140063..188284087hg38UCSC Ensembl
Innerchr3:187857851..188001875hg19UCSC Ensembl
Innerchr3:189340545..189484569hg18UCSC Ensembl
Innerchr3:189340553..189484577hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38144025
hg19144025
hg18144025
hg17144025
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)essv6983001
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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