A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647839



Internal ID7034578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42706455..42708304hg38UCSC Ensembl
Innerchr22:42706516..42708244hg38UCSC Ensembl
Outerchr22:42706395..42708365hg38UCSC Ensembl
chr22:43102461..43104310hg19UCSC Ensembl
Innerchr22:43102522..43104250hg19UCSC Ensembl
Outerchr22:43102401..43104371hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381850
hg191850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16433310
SamplesNA20508
Known GenesA4GALT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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