A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331775



Internal ID15178764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141066271..141067169hg38UCSC Ensembl
Innerchr8:141066270..141067170hg38UCSC Ensembl
Outerchr8:141065271..141068169hg38UCSC Ensembl
chr8:142076370..142077268hg19UCSC Ensembl
Innerchr8:142076369..142077269hg19UCSC Ensembl
Outerchr8:142075370..142078268hg19UCSC Ensembl
chr8:142145552..142146450hg18UCSC Ensembl
Innerchr8:142146451..142145551hg18UCSC Ensembl
Outerchr8:142144552..142147450hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696190
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331775
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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