A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13161447



Internal ID3163263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33385567..33390078hg38UCSC Ensembl
Innerchr8:33386067..33389578hg38UCSC Ensembl
Outerchr8:33384567..33391078hg38UCSC Ensembl
chr8:33243085..33247596hg19UCSC Ensembl
Innerchr8:33243585..33247096hg19UCSC Ensembl
Outerchr8:33242085..33248596hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384512
hg194512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616833
Supporting Variants
SamplesHG01872
Known GenesFUT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13161447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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