A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731126



Internal ID13700601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124755190..124755274hg38UCSC Ensembl
Innerchr8:124755231..124755232hg38UCSC Ensembl
Outerchr8:124755090..124755374hg38UCSC Ensembl
chr8:125767432..125767516hg19UCSC Ensembl
Innerchr8:125767473..125767474hg19UCSC Ensembl
Outerchr8:125767332..125767616hg19UCSC Ensembl
chr8:125836613..125836697hg18UCSC Ensembl
Innerchr8:125836655..125836654hg18UCSC Ensembl
Outerchr8:125836513..125836797hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302584
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731126
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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