A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27319



Internal ID94452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52681150..52783493hg19UCSC Ensembl
Innerchr12:50967417..51069760hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv12884, esv17772, esv18328, esv10943, esv14644
SamplesNA07037, NA12776, NA11995, NA12239, NA12749
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
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)esv27319
Frequency
Sample Size451
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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