A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696254



Internal ID14751411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144599860..144602558hg38UCSC Ensembl
Innerchr8:144600860..144601558hg38UCSC Ensembl
Outerchr8:144598860..144603558hg38UCSC Ensembl
chr8:145825244..145827942hg19UCSC Ensembl
Innerchr8:145826244..145826942hg19UCSC Ensembl
Outerchr8:145824244..145828942hg19UCSC Ensembl
chr8:145796052..145798750hg18UCSC Ensembl
Innerchr8:145797052..145797750hg18UCSC Ensembl
Outerchr8:145795052..145799750hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3333453
Supporting Variants
SamplesNA19240
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696254
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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