A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800356



Internal ID19167758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56675574..56703959hg38UCSC Ensembl
Innerchr2:56902709..56931094hg19UCSC Ensembl
Innerchr2:56756213..56784598hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3828386
hg1928386
hg1828386
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892492
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800356
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