A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25877



Internal ID93072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92232083..92233422hg19UCSC Ensembl
Innerchr1:92004671..92006010hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv16892
SamplesNA12489, NA18511, NA11931, NA12828, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA12414, NA12004, NA11894, NA11995, NA12006, NA07045, NA06985, NA18909, NA12156, NA19099, NA12878, NA11993
Known GenesTGFBR3
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)esv25877
Frequency
Sample Size451
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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