A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618281



Internal ID7005163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104991222..104996401hg38UCSC Ensembl
Innerchr8:104991222..104996401hg38UCSC Ensembl
Outerchr8:104991053..104996560hg38UCSC Ensembl
chr8:106003450..106008629hg19UCSC Ensembl
Innerchr8:106003450..106008629hg19UCSC Ensembl
Outerchr8:106003281..106008788hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg385180
hg195180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13272646
SamplesHG02541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618281
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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