A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992467



Internal ID6728429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132148992..132150752hg38UCSC Ensembl
Innerchr12:132633537..132635297hg19UCSC Ensembl
Innerchr12:131199490..131201250hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381761
hg191761
hg181761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586543
SamplesHuRef
Known GenesNOC4L
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992467
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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