A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394388



Internal ID15241353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144767463..144768661hg38UCSC Ensembl
Innerchr8:144767661..144768463hg38UCSC Ensembl
Outerchr8:144766463..144769661hg38UCSC Ensembl
chr8:145992848..145994046hg19UCSC Ensembl
Innerchr8:145993046..145993848hg19UCSC Ensembl
Outerchr8:145991848..145995046hg19UCSC Ensembl
chr8:145963652..145964850hg18UCSC Ensembl
Innerchr8:145964652..145963850hg18UCSC Ensembl
Outerchr8:145962652..145965850hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4272e59
Supporting Variantsessv8696256
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394388
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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