A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24436



Internal ID93524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54526625..54529250hg19UCSC Ensembl
Innerchr10:54196631..54199256hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv10317
SamplesNA18508, NA18502
Known GenesMBL2
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)esv24436
Frequency
Sample Size451
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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