A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15429924



Internal ID5431740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23922814..23930927hg38UCSC Ensembl
Innerchr16:23922817..23930925hg38UCSC Ensembl
Outerchr16:23922812..23930930hg38UCSC Ensembl
chr16:23934135..23942248hg19UCSC Ensembl
Innerchr16:23934138..23942246hg19UCSC Ensembl
Outerchr16:23934133..23942251hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388114
hg198114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638240
Supporting Variants
SamplesNA20806
Known GenesPRKCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15429924
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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