A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796690



Internal ID18813607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188999856..189030368hg38UCSC Ensembl
Innerchr2:189864582..189895094hg19UCSC Ensembl
Innerchr2:189572827..189603339hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3830513
hg1930513
hg1830513
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893522
Supporting Variants
Samples
Known GenesCOL3A1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796690
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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