A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21656



Internal ID107021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:152952888..153015736hg19UCSC Ensembl
InnerchrX:152606082..152668930hg18UCSC Ensembl
CytobandXq28
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 Variantsesv16337, esv16124, esv11280
SamplesNA19257, NA12044, NA12287
Known GenesABCD1, BCAP31, SLC6A8
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)esv21656
Frequency
Sample Size451
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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