A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618273



Internal ID6658467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104348329..104351274hg38UCSC Ensembl
Innerchr8:104348329..104351274hg38UCSC Ensembl
Outerchr8:104348064..104351531hg38UCSC Ensembl
chr8:105360557..105363502hg19UCSC Ensembl
Innerchr8:105360557..105363502hg19UCSC Ensembl
Outerchr8:105360292..105363759hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382946
hg192946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13272033
SamplesHG03917
Known GenesDCSTAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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