A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13269768



Internal ID6618530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102107970..102108715hg38UCSC Ensembl
Innerchr8:102107980..102108705hg38UCSC Ensembl
Outerchr8:102107960..102108725hg38UCSC Ensembl
chr8:103120198..103120943hg19UCSC Ensembl
Innerchr8:103120208..103120933hg19UCSC Ensembl
Outerchr8:103120188..103120953hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618217
Supporting Variants
SamplesNA20785
Known GenesNCALD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13269768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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