A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647406



Internal ID6687461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23571439..23629679hg38UCSC Ensembl
Innerchr22:23571939..23629179hg38UCSC Ensembl
Outerchr22:23570439..23630679hg38UCSC Ensembl
chr22:23913626..23971866hg19UCSC Ensembl
Innerchr22:23914126..23971366hg19UCSC Ensembl
Outerchr22:23912626..23972866hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3858241
hg1958241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828e214
Supporting Variantsessv16385145, essv16385144
SamplesHG00326, NA18505
Known GenesC22orf43, IGLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647406
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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