A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214300



Internal ID3626712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66123908..66124665hg38UCSC Ensembl
Innerchr8:66123958..66124615hg38UCSC Ensembl
Outerchr8:66123850..66124723hg38UCSC Ensembl
chr8:67036143..67036900hg19UCSC Ensembl
Innerchr8:67036193..67036850hg19UCSC Ensembl
Outerchr8:67036085..67036958hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617478
Supporting Variants
SamplesHG03225
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214300
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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