A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22143



Internal ID108689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169059628..169621268hg19UCSC Ensembl
Innerchr1:167326252..167887892hg18UCSC Ensembl
Cytoband1q24.2
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 Variantsesv10418, esv15526, esv17936
SamplesNA18861, NA07037, NA19114, NA18511, NA18517, NA19257, NA19108, NA18505, NA19147, NA18508, NA12004, NA18916, NA19190, NA12006, NA19129, NA18502, NA18858, NA18907, NA12749, NA12156, NA19099, NA12878, NA19240
Known GenesATP1B1, BLZF1, C1orf114, F5, NME7, SELP, SLC19A2
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)esv22143
Frequency
Sample Size451
Observed Gain21
Observed Loss2
Observed Complex0
Frequencyn/a


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