A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347293



Internal ID15194275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20382172..20382870hg38UCSC Ensembl
Innerchr1:20382171..20382871hg38UCSC Ensembl
Outerchr1:20381172..20383870hg38UCSC Ensembl
chr1:20708665..20709363hg19UCSC Ensembl
Innerchr1:20708664..20709364hg19UCSC Ensembl
Outerchr1:20707665..20710363hg19UCSC Ensembl
chr1:20581252..20581950hg18UCSC Ensembl
Innerchr1:20581951..20581251hg18UCSC Ensembl
Outerchr1:20580252..20582950hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692107
SamplesNA19240
Known GenesLINC01141
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347293
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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