A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788252



Internal ID19163234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2783827..2961801hg38UCSC Ensembl
Innerchr1:2700372..2878366hg19UCSC Ensembl
Innerchr1:2690232..2868226hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38177975
hg19177995
hg18177995
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892858
Supporting Variants
Samples
Known GenesTTC34
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788252
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