A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16365520



Internal ID6367336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19544263..19571532hg38UCSC Ensembl
chr22:19531786..19559055hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3827270
hg1927270
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647275
Supporting Variants
SamplesHG00141
Known GenesLINC00895
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16365520
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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