A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752019



Internal ID12985571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8784435..8854946hg38UCSC Ensembl
Innerchr3:8826121..8896630hg19UCSC Ensembl
Innerchr3:8801121..8871630hg18UCSC Ensembl
Innerchr3:8801121..8871630hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3870512
hg1970510
hg1870510
hg1770510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981266, essv6985522
SamplesBEC_375
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752019
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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