A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325992



Internal ID15172973
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 StatusM
Merged Variants
Supporting Variantsessv8939314, essv8939306, essv8939317, essv8939311, essv8939316, essv8939310, essv8939312, essv8939315, essv8939309, essv8939308, essv8939307
SamplesNA18861, NA10851, NA11931, NA12287, NA18499, NA11894, NA19225, NA19108, NA18943, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325992
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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