A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647568



Internal ID7034308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30699029..30705750hg38UCSC Ensembl
chr22:31095016..31101737hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386722
hg196722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403042, essv16403041, essv16403040
SamplesHG01885, HG01305, HG03556
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647568
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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