A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434420



Internal ID14934688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531160..144532358hg38UCSC Ensembl
Innerchr8:144531358..144532160hg38UCSC Ensembl
Outerchr8:144530160..144533358hg38UCSC Ensembl
chr8:145756544..145757742hg19UCSC Ensembl
Innerchr8:145756742..145757544hg19UCSC Ensembl
Outerchr8:145755544..145758742hg19UCSC Ensembl
chr8:145727352..145728550hg18UCSC Ensembl
Innerchr8:145728352..145727550hg18UCSC Ensembl
Outerchr8:145726352..145729550hg18UCSC 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 Variantsdgv4271e59
Supporting Variantsessv8696252
SamplesNA19240
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434420
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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