A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647327



Internal ID6687382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21960944..22005872hg38UCSC Ensembl
chr22:22315316..22360270hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3844929
hg1944955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16371087, essv16371090, essv16371088, essv16371081, essv16371080, essv16371078, essv16371089, essv16371091, essv16371082, essv16371093, essv16371085, essv16371083, essv16371084, essv16371077, essv16371076, essv16371079, essv16371092, essv16371086
SamplesHG02793, HG01131, HG03680, HG02588, NA18990, HG02861, NA18539, NA18572, HG02040, HG02265, HG00525, HG01991, HG01779, NA21101, HG03716, HG03367, HG02891, HG03074
Known GenesTOP3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647327
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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