A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27496



Internal ID109393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153785404..153798129hg19UCSC Ensembl
InnerchrX:153438598..153451323hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv18732
SamplesNA18511, NA12776, NA18909, NA19225
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)esv27496
Frequency
Sample Size451
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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