A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638240



Internal ID6678338
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15429919, essv15429918, essv15429909, essv15429911, essv15429924, essv15429914, essv15429922, essv15429910, essv15429913, essv15429908, essv15429912, essv15429925, essv15429915, essv15429920, essv15429921, essv15429923, essv15429917, essv15429916
SamplesHG01441, HG01518, NA20806, NA20798, NA20795, HG02266, HG04182, NA20768, NA20759, HG01550, HG00132, HG01311, HG02494, HG01705, HG01474, NA06985, NA20828, HG00180
Known GenesPRKCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638240
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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