A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305066



Internal ID14805328
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 StatusM
Merged Variants
Supporting Variantsessv7751367, essv7745727, essv7747490, essv7756792, essv7744387, essv7754318, essv7751760, essv7753768, essv7757559, essv7743429, essv7745881, essv7749120, essv7761555, essv7756463, essv7757944, essv7761213, essv7758955, essv7750036, essv7755750, essv7740724, essv7748364, essv7759302, essv7757173, essv7749743, essv7748184
SamplesNA11881, NA12154, NA19093, NA11918, NA12828, NA12776, NA12044, NA18912, NA18508, NA11894, NA12144, NA12751, NA12006, NA19129, NA19238, NA18558, NA18945, NA18940, NA12749, NA12156, NA11830, NA12045, NA19240, NA18532, NA07000
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305066
Frequency
Sample Size185
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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