A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893481



Internal ID18837615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146648284..147676169hg38UCSC Ensembl
Outerchr2:146622636..147684244hg38UCSC Ensembl
Innerchr2:147405852..148433737hg19UCSC Ensembl
Outerchr2:147380204..148441812hg19UCSC Ensembl
Innerchr2:147122322..148150207hg18UCSC Ensembl
Outerchr2:147096674..148158282hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381061609
hg191061609
hg181061609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791165, essv25791208
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893481
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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