A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13851533



Internal ID4226879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68717052..68720333hg38UCSC Ensembl
Innerchr10:68717114..68720272hg38UCSC Ensembl
Outerchr10:68716991..68720395hg38UCSC Ensembl
chr10:70476809..70480090hg19UCSC Ensembl
Innerchr10:70476871..70480029hg19UCSC Ensembl
Outerchr10:70476748..70480152hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg383282
hg193282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623726
Supporting Variants
SamplesHG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13851533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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