A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9597236



Internal ID13246451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184823118..184823137hg38UCSC Ensembl
Innerchr1:184823114..184823141hg38UCSC Ensembl
Outerchr1:184823095..184823160hg38UCSC Ensembl
chr1:184792252..184792271hg19UCSC Ensembl
Innerchr1:184792248..184792275hg19UCSC Ensembl
Outerchr1:184792229..184792294hg19UCSC Ensembl
chr1:183058875..183058894hg18UCSC Ensembl
Innerchr1:183058898..183058871hg18UCSC Ensembl
Outerchr1:183058852..183058917hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384812
Supporting Variants
SamplesNA12812
Known GenesFAM129A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9597236
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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