A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1405e1



Internal ID6309203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37175154..37360905hg19UCSC Ensembl
chr22:35505100..35690851hg18UCSC Ensembl
chr22:35499654..35685405hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv360, essv18236, essv19493, essv10753, essv21863, essv7188, essv17473
SamplesNA18523, NA11839, NA12864, NA12762, NA18547, NA12057
Known GenesCSF2RB, NCF4, PVALB
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv1405e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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