A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618553



Internal ID7005435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117304010..117325331hg38UCSC Ensembl
Innerchr8:117304160..117325181hg38UCSC Ensembl
Outerchr8:117303860..117325481hg38UCSC Ensembl
chr8:118316249..118337570hg19UCSC Ensembl
Innerchr8:118316399..118337420hg19UCSC Ensembl
Outerchr8:118316099..118337720hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3821322
hg1921322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13300832
SamplesHG01997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618553
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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