A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417557



Internal ID15264515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156189638..156189664hg38UCSC Ensembl
Innerchr3:156189648..156189652hg38UCSC Ensembl
Outerchr3:156189622..156189678hg38UCSC Ensembl
chr3:155907427..155907453hg19UCSC Ensembl
Innerchr3:155907437..155907441hg19UCSC Ensembl
Outerchr3:155907411..155907467hg19UCSC Ensembl
chr3:157390121..157390147hg18UCSC Ensembl
Innerchr3:157390135..157390131hg18UCSC Ensembl
Outerchr3:157390105..157390161hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8916115
SamplesNA19099
Known GenesKCNAB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417557
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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