A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791701



Internal ID19163668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76782873..77589022hg38UCSC Ensembl
Innerchr2:77009999..77816148hg19UCSC Ensembl
Innerchr2:76863507..77669656hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38806150
hg19806150
hg18806150
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892714
Supporting Variants
Samples
Known GenesLRRTM4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=205
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791701
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