A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501456



Internal ID5503272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67531203..67534341hg38UCSC Ensembl
Innerchr16:67531253..67534291hg38UCSC Ensembl
Outerchr16:67531107..67534437hg38UCSC Ensembl
chr16:67565106..67568244hg19UCSC Ensembl
Innerchr16:67565156..67568194hg19UCSC Ensembl
Outerchr16:67565010..67568340hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383139
hg193139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638889
Supporting Variants
SamplesNA12776
Known GenesFAM65A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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