A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600854



Internal ID6641112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67821801..67827581hg38UCSC Ensembl
Innerchr4:67821818..67827564hg38UCSC Ensembl
Outerchr4:67821784..67827598hg38UCSC Ensembl
chr4:68687519..68693299hg19UCSC Ensembl
Innerchr4:68687536..68693282hg19UCSC Ensembl
Outerchr4:68687502..68693316hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg385781
hg195781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11476736
SamplesHG02887
Known GenesTMPRSS11D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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