A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451263



Internal ID14951524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111458638..111458657hg38UCSC Ensembl
Innerchr1:111458634..111458661hg38UCSC Ensembl
Outerchr1:111458615..111458680hg38UCSC Ensembl
chr1:112001260..112001279hg19UCSC Ensembl
Innerchr1:112001256..112001283hg19UCSC Ensembl
Outerchr1:112001237..112001302hg19UCSC Ensembl
chr1:111802783..111802802hg18UCSC Ensembl
Innerchr1:111802806..111802779hg18UCSC Ensembl
Outerchr1:111802760..111802825hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596046
SamplesNA19141
Known GenesATP5F1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451263
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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