A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788117



Internal ID18827127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12822887..12921716hg38UCSC Ensembl
Innerchr3:12864386..12963216hg19UCSC Ensembl
Innerchr3:12839386..12938216hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3898830
hg1998831
hg1898831
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893663
Supporting Variants
Samples
Known GenesCAND2, IQSEC1, RPL32, SNORA7A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788117
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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