A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345312



Internal ID15192296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144767563..144768461hg38UCSC Ensembl
Innerchr8:144767562..144768462hg38UCSC Ensembl
Outerchr8:144766563..144769461hg38UCSC Ensembl
chr8:145992948..145993846hg19UCSC Ensembl
Innerchr8:145992947..145993847hg19UCSC Ensembl
Outerchr8:145991948..145994846hg19UCSC Ensembl
chr8:145963752..145964650hg18UCSC Ensembl
Innerchr8:145964651..145963751hg18UCSC Ensembl
Outerchr8:145962752..145965650hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696258
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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