A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370120



Internal ID6371936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19985583..20137122hg38UCSC Ensembl
chr22:19973106..20124645hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38151540
hg19151540
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647284
Supporting Variants
SamplesHG00141
Known GenesARVCF, DGCR8, MIR1306, MIR185, MIR3618, MIR6816, RANBP1, TANGO2, TRMT2A, ZDHHC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370120
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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