A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616260



Internal ID7003147
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13104161
SamplesHG03258
Known GenesCTSB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616260
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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