A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751980



Internal ID12638846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:145755233..146040407hg38UCSC Ensembl
Innerchr3:145473020..145758194hg19UCSC Ensembl
Innerchr3:146955710..147240884hg18UCSC Ensembl
Innerchr3:146955718..147240892hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38285175
hg19285175
hg18285175
hg17285175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983730, essv6989388, essv6983731, essv6983729, essv6989848
SamplesBEC_618
Known Genes
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)esv2751980
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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