A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131083



Internal ID3132899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19662939..19686192hg38UCSC Ensembl
chr8:19520450..19543703hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3823254
hg1923254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616545
Supporting Variants
SamplesNA19399
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131083
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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