A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26513



Internal ID110419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6146518..6148317hg19UCSC Ensembl
Innerchr12:6016779..6018578hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv10747
SamplesNA19147
Known GenesVWF
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)esv26513
Frequency
Sample Size451
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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