A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16427696



Internal ID4434411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39042894..39047430hg38UCSC Ensembl
Innerchr22:39042927..39047398hg38UCSC Ensembl
Outerchr22:39042862..39047463hg38UCSC Ensembl
chr22:39438899..39443435hg19UCSC Ensembl
Innerchr22:39438932..39443403hg19UCSC Ensembl
Outerchr22:39438867..39443468hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647757
Supporting Variants
SamplesHG03945
Known GenesAPOBEC3F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16427696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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