A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752006



Internal ID12638872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4047125..4198166hg38UCSC Ensembl
Innerchr3:4088809..4239850hg19UCSC Ensembl
Innerchr3:4063809..4214850hg18UCSC Ensembl
Innerchr3:4063809..4214850hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38151042
hg19151042
hg18151042
hg17151042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989549, essv6989275, essv6981975, essv6981976
SamplesBEC_51
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)esv2752006
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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