A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788249



Internal ID19177057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2783827..2889542hg38UCSC Ensembl
Innerchr1:2700372..2806107hg19UCSC Ensembl
Innerchr1:2690232..2795967hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38105716
hg19105736
hg18105736
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=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788249
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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