A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658327



Internal ID9577746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24115187..24115497hg38UCSC Ensembl
chr16:24126508..24126818hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv487e199
Supporting Variantsessv5828525, essv6085063, essv5611681, essv6100409, essv6229241, essv6526212, essv6066366, essv5752706, essv5414955, essv6196511, essv5719508, essv6198864, essv5794619
SamplesHG01060, HG01462, HG01080, HG00335, HG01048, HG01102, HG00284, HG00331, NA18593, HG00124, HG00614, HG00123, NA12006
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658327
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer