A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647276



Internal ID6687331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19544263..19678564hg38UCSC Ensembl
chr22:19531786..19666087hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38134302
hg19134302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16365521
SamplesHG00141
Known GenesLINC00895
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647276
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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