A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779583



Internal ID18823935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51065295..51119864hg38UCSC Ensembl
Innerchr2:51292433..51347002hg19UCSC Ensembl
Innerchr2:51145937..51200506hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3854570
hg1954570
hg1854570
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892204
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779583
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