A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893578



Internal ID19184398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241764138..241804528hg38UCSC Ensembl
Outerchr2:241764138..241804528hg38UCSC Ensembl
Innerchr2:242703553..242743943hg19UCSC Ensembl
Outerchr2:242703553..242743943hg19UCSC Ensembl
Innerchr2:242352226..242392616hg18UCSC Ensembl
Outerchr2:242352226..242392616hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3840391
hg1940391
hg1840391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784345, essv25781393, essv25783540
Samples
Known GenesD2HGDH, GAL3ST2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893578
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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