A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351237



Internal ID15198218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51814755..51814789hg38UCSC Ensembl
Innerchr8:51814757..51814787hg38UCSC Ensembl
Outerchr8:51814753..51814791hg38UCSC Ensembl
chr8:52727315..52727349hg19UCSC Ensembl
Innerchr8:52727317..52727347hg19UCSC Ensembl
Outerchr8:52727313..52727351hg19UCSC Ensembl
chr8:52889868..52889902hg18UCSC Ensembl
Innerchr8:52889870..52889900hg18UCSC Ensembl
Outerchr8:52889866..52889904hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864847
SamplesNA18953
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351237
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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