A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788033



Internal ID18827563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84623719..84651430hg38UCSC Ensembl
Innerchr1:85089402..85117113hg19UCSC Ensembl
Innerchr1:84861990..84889701hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3827712
hg1927712
hg1827712
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893779
Supporting Variants
Samples
Known GenesC1orf180, SSX2IP
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788033
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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