A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16433310



Internal ID6439900
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647839
Supporting Variants
SamplesNA20508
Known GenesA4GALT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16433310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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