A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22153



Internal ID110479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46771584..46772827hg19UCSC Ensembl
InnerchrX:46656528..46657771hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv21248
SamplesNA11993
Known GenesPHF16
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)esv22153
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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