A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751987



Internal ID12638853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188124933..188289510hg38UCSC Ensembl
Innerchr3:187842721..188007298hg19UCSC Ensembl
Innerchr3:189325415..189489992hg18UCSC Ensembl
Innerchr3:189325423..189490000hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38164578
hg19164578
hg18164578
hg17164578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986319, essv6983000, essv6983001, essv6983003, essv6983002
SamplesBEC_532
Known GenesFLJ42393, LPP, LPP-AS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751987
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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