A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339804



Internal ID14840074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112529751..112529773hg38UCSC Ensembl
Innerchr1:112529716..112529808hg38UCSC Ensembl
Outerchr1:112529694..112529830hg38UCSC Ensembl
chr1:113072373..113072395hg19UCSC Ensembl
Innerchr1:113072338..113072430hg19UCSC Ensembl
Outerchr1:113072316..113072452hg19UCSC Ensembl
chr1:112873896..112873918hg18UCSC Ensembl
Innerchr1:112873953..112873861hg18UCSC Ensembl
Outerchr1:112873839..112873975hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863744, essv7863745
SamplesNA18520, NA18961
Known GenesST7L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339804
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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