A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421436



Internal ID6423252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38450285..38474764hg38UCSC Ensembl
chr22:38846291..38870769hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3824480
hg1924479
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647732
Supporting Variants
SamplesHG01971
Known GenesKCNJ4, KDELR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421436
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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