A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789560



Internal ID18825291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12852648hg38UCSC Ensembl
Innerchr1:12860749..12912501hg19UCSC Ensembl
Innerchr1:12783336..12835088hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3852048
hg1951753
hg1851753
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891192
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789560
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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