A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16441136



Internal ID6442952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45247581..45517162hg38UCSC Ensembl
Innerchr22:45247731..45517012hg38UCSC Ensembl
Outerchr22:45247431..45517312hg38UCSC Ensembl
chr22:45643462..45913042hg19UCSC Ensembl
Innerchr22:45643612..45912892hg19UCSC Ensembl
Outerchr22:45643312..45913192hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38269582
hg19269581
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647921
Supporting Variants
SamplesNA18980
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16441136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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