A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13272646



Internal ID2865712
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618281
Supporting Variants
SamplesHG02541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13272646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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