A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778850



Internal ID18813399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50887566..51133529hg38UCSC Ensembl
Innerchr2:51114704..51360667hg19UCSC Ensembl
Innerchr2:50968208..51214171hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38245964
hg19245964
hg18245964
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892215
Supporting Variants
Samples
Known GenesNRXN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=72
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778850
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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