A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754318



Internal ID13043266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170682307..170682308hg38UCSC Ensembl
Innerchr1:170682255..170682360hg38UCSC Ensembl
Outerchr1:170682254..170682361hg38UCSC Ensembl
chr1:170651448..170651449hg19UCSC Ensembl
Innerchr1:170651396..170651501hg19UCSC Ensembl
Outerchr1:170651395..170651502hg19UCSC Ensembl
chr1:168918072..168918073hg18UCSC Ensembl
Innerchr1:168918125..168918020hg18UCSC Ensembl
Outerchr1:168918019..168918126hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305066
Supporting Variants
SamplesNA12154
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754318
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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