A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989202



Internal ID7076016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29990271..29990271hg38UCSC Ensembl
chr3:30031762..30031762hg19UCSC Ensembl
chr3:30006766..30006766hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585876
SamplesHuRef
Known GenesRBMS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989202
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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