A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639604



Internal ID6679695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89974426..89976186hg38UCSC Ensembl
Innerchr16:89974436..89976176hg38UCSC Ensembl
Outerchr16:89974416..89976196hg38UCSC Ensembl
chr16:90040834..90042594hg19UCSC Ensembl
Innerchr16:90040844..90042584hg19UCSC Ensembl
Outerchr16:90040824..90042604hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381761
hg191761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569958, essv15569960, essv15569962, essv15569961, essv15569959
SamplesNA20321, NA20320, HG03209, HG02675, HG03028
Known GenesAFG3L1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639604
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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