A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616645



Internal ID7003531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24173294..24174775hg38UCSC Ensembl
Innerchr8:24173308..24174762hg38UCSC Ensembl
Outerchr8:24173281..24174789hg38UCSC Ensembl
chr8:24030807..24032288hg19UCSC Ensembl
Innerchr8:24030821..24032275hg19UCSC Ensembl
Outerchr8:24030794..24032302hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13136292, essv13136291
SamplesNA18959, HG03649
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616645
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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