A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990214



Internal ID6726182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12781664..12891244hg38UCSC Ensembl
Innerchr1:12841807..12951075hg19UCSC Ensembl
Innerchr1:12764394..12873662hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38109581
hg19109269
hg18109269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586626
SamplesHuRef
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2, PRAMEF4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990214
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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