A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435824



Internal ID2261468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43633980..43636640hg38UCSC Ensembl
Innerchr22:43633980..43636640hg38UCSC Ensembl
Outerchr22:43633850..43636854hg38UCSC Ensembl
chr22:44029860..44032520hg19UCSC Ensembl
Innerchr22:44029860..44032520hg19UCSC Ensembl
Outerchr22:44029730..44032734hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647873
Supporting Variants
SamplesHG02023
Known GenesEFCAB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435824
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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