A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421221



Internal ID2762445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38019470..38034342hg38UCSC Ensembl
chr22:38415477..38430349hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3814873
hg1914873
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647724
Supporting Variants
SamplesHG02429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421221
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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