A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652216



Internal ID14755676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10365545..10366355hg38UCSC Ensembl
Innerchr3:10365545..10366355hg38UCSC Ensembl
Outerchr3:10364814..10367148hg38UCSC Ensembl
chr3:10407229..10408039hg19UCSC Ensembl
Innerchr3:10407229..10408039hg19UCSC Ensembl
Outerchr3:10406498..10408832hg19UCSC Ensembl
chr3:10382229..10383039hg18UCSC Ensembl
Innerchr3:10382229..10383039hg18UCSC Ensembl
Outerchr3:10381498..10383832hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435699
Supporting Variants
SamplesNA19240
Known GenesATP2B2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652216
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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