A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192471



Internal ID2145777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47906393..47907365hg38UCSC Ensembl
Innerchr8:47906395..47907363hg38UCSC Ensembl
Outerchr8:47906391..47907367hg38UCSC Ensembl
chr8:48818953..48819925hg19UCSC Ensembl
Innerchr8:48818955..48819923hg19UCSC Ensembl
Outerchr8:48818951..48819927hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617105
Supporting Variants
SamplesHG01944
Known GenesPRKDC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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