A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv837e214



Internal ID20122260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29365410..29422615hg38UCSC Ensembl
chr22:29761399..29818604hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857206
hg1957206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647532, esv3647534
SamplesHG02648, NA20878, HG01889
Known GenesAP1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv837e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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