A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783078



Internal ID19163925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52016024..52039236hg38UCSC Ensembl
Innerchr2:52243162..52266374hg19UCSC Ensembl
Innerchr2:52096666..52119878hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3823213
hg1923213
hg1823213
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892304
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783078
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