A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692544



Internal ID15067849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41162998..41166096hg38UCSC Ensembl
Innerchr20:41163998..41165096hg38UCSC Ensembl
Outerchr20:41161998..41167096hg38UCSC Ensembl
chr20:39791638..39794736hg19UCSC Ensembl
Innerchr20:39792638..39793736hg19UCSC Ensembl
Outerchr20:39790638..39795736hg19UCSC Ensembl
chr20:39225052..39228150hg18UCSC Ensembl
Innerchr20:39226052..39227150hg18UCSC Ensembl
Outerchr20:39224052..39229150hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3349705
Supporting Variants
SamplesNA19239
Known GenesPLCG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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