A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647477



Internal ID6687532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25532116..25581488hg38UCSC Ensembl
chr22:25928083..25977455hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3849373
hg1949373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16395764, essv16395769, essv16395767, essv16395773, essv16395768, essv16395770, essv16395775, essv16395772, essv16395762, essv16395765, essv16395763, essv16395766, essv16395774, essv16395771
SamplesNA19443, NA19307, NA19916, HG03520, HG01281, HG02582, HG02878, HG03382, HG03854, HG04090, NA19117, HG03442, HG03538, NA19030
Known GenesADRBK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647477
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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