A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696249



Internal ID14751385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143606539..143608637hg38UCSC Ensembl
Innerchr8:143607539..143607637hg38UCSC Ensembl
Outerchr8:143605539..143609637hg38UCSC Ensembl
chr8:144688709..144690807hg19UCSC Ensembl
Innerchr8:144689709..144689807hg19UCSC Ensembl
Outerchr8:144687709..144691807hg19UCSC Ensembl
chr8:144759852..144761950hg18UCSC Ensembl
Innerchr8:144760852..144760950hg18UCSC Ensembl
Outerchr8:144758852..144762950hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397304
Supporting Variants
SamplesNA19240
Known GenesPYCRL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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