A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13281032



Internal ID4454460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108515917..108523648hg38UCSC Ensembl
Innerchr8:108515929..108523637hg38UCSC Ensembl
Outerchr8:108515906..108523660hg38UCSC Ensembl
chr8:109528146..109535877hg19UCSC Ensembl
Innerchr8:109528158..109535866hg19UCSC Ensembl
Outerchr8:109528135..109535889hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg387732
hg197732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618356
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13281032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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