A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131082



Internal ID3132898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19662777..19683354hg38UCSC Ensembl
chr8:19520288..19540865hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3820578
hg1920578
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616544
Supporting Variants
SamplesHG03660
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131082
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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