A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534144



Internal ID2369048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80414412..80518833hg38UCSC Ensembl
Innerchr16:80414419..80518826hg38UCSC Ensembl
Outerchr16:80414405..80518840hg38UCSC Ensembl
chr16:80448309..80552730hg19UCSC Ensembl
Innerchr16:80448316..80552723hg19UCSC Ensembl
Outerchr16:80448302..80552737hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38104422
hg19104422
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639270
Supporting Variants
SamplesHG02102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534144
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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