A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788293



Internal ID19170581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104414941..104454561hg38UCSC Ensembl
Innerchr1:104957563..104997183hg19UCSC Ensembl
Innerchr1:104759086..104798706hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3839621
hg1939621
hg1839621
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893901
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788293
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer