A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24652



Internal ID112183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153777816..153783613hg19UCSC Ensembl
InnerchrX:153431010..153436807hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv10020
SamplesNA12878
Known GenesIKBKG
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)esv24652
Frequency
Sample Size451
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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