A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312384



Internal ID413228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124856574..124946651hg38UCSC Ensembl
chr8:125868816..125958893hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3890078
hg1990078
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618706
Supporting Variants
SamplesHG00123
Known GenesLINC00964
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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