A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893564



Internal ID18837698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229160894..229169366hg38UCSC Ensembl
Outerchr2:229160894..229169366hg38UCSC Ensembl
Innerchr2:230025610..230034082hg19UCSC Ensembl
Outerchr2:230025610..230034082hg19UCSC Ensembl
Innerchr2:229733854..229742326hg18UCSC Ensembl
Outerchr2:229733854..229742326hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg388473
hg198473
hg188473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796325
Samples
Known GenesPID1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893564
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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