A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782708



Internal ID19165475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44232091..44240933hg38UCSC Ensembl
Innerchr2:44459230..44468072hg19UCSC Ensembl
Innerchr2:44312734..44321576hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388843
hg198843
hg188843
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892015
Supporting Variants
Samples
Known GenesPPM1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782708
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