A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676927



Internal ID15021949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108198689..108198705hg38UCSC Ensembl
Innerchr8:108198682..108198710hg38UCSC Ensembl
Outerchr8:108198668..108198726hg38UCSC Ensembl
chr8:109210918..109210934hg19UCSC Ensembl
Innerchr8:109210911..109210939hg19UCSC Ensembl
Outerchr8:109210897..109210955hg19UCSC Ensembl
chr8:109280094..109280110hg18UCSC Ensembl
Innerchr8:109280115..109280087hg18UCSC Ensembl
Outerchr8:109280073..109280131hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3326041
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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