A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786533



Internal ID19162299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233694128..233738887hg38UCSC Ensembl
Innerchr1:233829874..233874633hg19UCSC Ensembl
Innerchr1:231896497..231941256hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3844760
hg1944760
hg1844760
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891215
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786533
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