A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792004



Internal ID18812873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56933474..57202184hg38UCSC Ensembl
Innerchr8:57846033..58114743hg19UCSC Ensembl
Innerchr8:58008587..58277297hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38268711
hg19268711
hg18268711
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891400
Supporting Variants
Samples
Known GenesIMPAD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=43
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792004
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