A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8939307



Internal ID13182108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26671669..26671707hg38UCSC Ensembl
Innerchr8:26671677..26671697hg38UCSC Ensembl
Outerchr8:26671639..26671735hg38UCSC Ensembl
chr8:26529186..26529224hg19UCSC Ensembl
Innerchr8:26529194..26529214hg19UCSC Ensembl
Outerchr8:26529156..26529252hg19UCSC Ensembl
chr8:26585103..26585141hg18UCSC Ensembl
Innerchr8:26585131..26585111hg18UCSC Ensembl
Outerchr8:26585073..26585169hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325992
Supporting Variants
SamplesNA11894
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8939307
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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