A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789635



Internal ID18821802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232404005hg38UCSC Ensembl
Innerchr2:233211861..233268715hg19UCSC Ensembl
Innerchr2:232920105..232976959hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856855
hg1956855
hg1856855
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893570
Supporting Variants
Samples
Known GenesALPP, ECEL1P2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789635
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