A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435830



Internal ID5203985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43635397..43643969hg38UCSC Ensembl
Innerchr22:43635418..43643949hg38UCSC Ensembl
Outerchr22:43635377..43643990hg38UCSC Ensembl
chr22:44031277..44039849hg19UCSC Ensembl
Innerchr22:44031298..44039829hg19UCSC Ensembl
Outerchr22:44031257..44039870hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388573
hg198573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647874
Supporting Variants
SamplesNA18616
Known GenesEFCAB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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