A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13300545



Internal ID4592566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116273270..116293250hg38UCSC Ensembl
Innerchr8:116273271..116293249hg38UCSC Ensembl
Outerchr8:116273269..116293251hg38UCSC Ensembl
chr8:117285503..117305485hg19UCSC Ensembl
Innerchr8:117285504..117305484hg19UCSC Ensembl
Outerchr8:117285502..117305486hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3819981
hg1919983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618534
Supporting Variants
SamplesHG04106
Known GenesLINC00536
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13300545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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