A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752014



Internal ID12985566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68042729..68367839hg38UCSC Ensembl
Innerchr3:68091879..68416989hg19UCSC Ensembl
Innerchr3:68174569..68499679hg18UCSC Ensembl
Innerchr3:68174569..68499679hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38325111
hg19325111
hg18325111
hg17325111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980740, essv6986061, essv6980741, essv6990521
SamplesBEC_126
Known GenesFAM19A1
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)esv2752014
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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