A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790602



Internal ID18816916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12858819hg38UCSC Ensembl
Innerchr1:12860749..12918674hg19UCSC Ensembl
Innerchr1:12783336..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3858219
hg1957926
hg1857926
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891192
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790602
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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