A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192415



Internal ID5574963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47841098..47846127hg38UCSC Ensembl
Innerchr8:47841111..47846115hg38UCSC Ensembl
Outerchr8:47841086..47846140hg38UCSC Ensembl
chr8:48753659..48758688hg19UCSC Ensembl
Innerchr8:48753672..48758676hg19UCSC Ensembl
Outerchr8:48753647..48758701hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg385030
hg195030
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617103
Supporting Variants
SamplesNA19020
Known GenesPRKDC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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