A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8823344



Internal ID13687070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186857182..186857182hg38UCSC Ensembl
Innerchr1:186857181..186857183hg38UCSC Ensembl
Outerchr1:186857122..186857232hg38UCSC Ensembl
chr1:186826314..186826314hg19UCSC Ensembl
Innerchr1:186826313..186826315hg19UCSC Ensembl
Outerchr1:186826254..186826364hg19UCSC Ensembl
chr1:185092937..185092937hg18UCSC Ensembl
Innerchr1:185092938..185092936hg18UCSC Ensembl
Outerchr1:185092877..185092987hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3339194
Supporting Variants
SamplesNA12878
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8823344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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