A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788897



Internal ID18831731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32544284..32658130hg38UCSC Ensembl
Innerchr2:32769351..32883197hg19UCSC Ensembl
Innerchr2:32622855..32736701hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38113847
hg19113847
hg18113847
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891703
Supporting Variants
Samples
Known GenesBIRC6, MIR4765, TTC27
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788897
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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