A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29239



Internal ID107250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12026486..12027014hg19UCSC Ensembl
Innerchr12:11917753..11918281hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv15967
SamplesNA18523, NA15510, NA19147, NA12414, NA18858, NA19099, NA19225, NA19240
Known GenesETV6
Method
AnalysisAt the top level of the hierarchy, all contiguous bases overlapping at least 1bp of a CNV call are merged into a “CNV region” (CNVR).
PlatformSanger H. Sapiens NimbleGen 42M CGH Array
Comments
ReferenceConrad et al 2009
Pubmed ID19812545
Accession Number(s)esv29239
Frequency
Sample Size451
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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