A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638241



Internal ID6678339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24058845..24060244hg38UCSC Ensembl
Innerchr16:24058859..24060230hg38UCSC Ensembl
Outerchr16:24058831..24060258hg38UCSC Ensembl
chr16:24070166..24071565hg19UCSC Ensembl
Innerchr16:24070180..24071551hg19UCSC Ensembl
Outerchr16:24070152..24071579hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15429927, essv15429926
SamplesHG03971, NA12413
Known GenesPRKCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638241
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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