A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435360



Internal ID6437176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43143279..43148526hg38UCSC Ensembl
Innerchr22:43143312..43148494hg38UCSC Ensembl
Outerchr22:43143247..43148559hg38UCSC Ensembl
chr22:43539285..43544532hg19UCSC Ensembl
Innerchr22:43539318..43544500hg19UCSC Ensembl
Outerchr22:43539253..43544565hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647855
Supporting Variants
SamplesHG00599
Known GenesMCAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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