A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478208



Internal ID872824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51992233..51993742hg38UCSC Ensembl
Innerchr16:51992276..51993700hg38UCSC Ensembl
Outerchr16:51992191..51993785hg38UCSC Ensembl
chr16:52026145..52027654hg19UCSC Ensembl
Innerchr16:52026188..52027612hg19UCSC Ensembl
Outerchr16:52026103..52027697hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638620
Supporting Variants
SamplesHG00463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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