A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13104161



Internal ID3655666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11863297..11864751hg38UCSC Ensembl
Innerchr8:11863340..11864708hg38UCSC Ensembl
Outerchr8:11863254..11864794hg38UCSC Ensembl
chr8:11720806..11722260hg19UCSC Ensembl
Innerchr8:11720849..11722217hg19UCSC Ensembl
Outerchr8:11720763..11722303hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616260
Supporting Variants
SamplesHG03258
Known GenesCTSB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13104161
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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