A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893577



Internal ID18837711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240707925..240760466hg38UCSC Ensembl
Outerchr2:240707925..240760466hg38UCSC Ensembl
Innerchr2:241647342..241699883hg19UCSC Ensembl
Outerchr2:241647342..241699883hg19UCSC Ensembl
Innerchr2:241296015..241348556hg18UCSC Ensembl
Outerchr2:241296015..241348556hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3852542
hg1952542
hg1852542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788129
Samples
Known GenesKIF1A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893577
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer