A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439414



Internal ID14939681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170682284..170682380hg38UCSC Ensembl
Innerchr1:170682272..170682390hg38UCSC Ensembl
Outerchr1:170682176..170682488hg38UCSC Ensembl
chr1:170651425..170651521hg19UCSC Ensembl
Innerchr1:170651413..170651531hg19UCSC Ensembl
Outerchr1:170651317..170651629hg19UCSC Ensembl
chr1:168918049..168918145hg18UCSC Ensembl
Innerchr1:168918155..168918037hg18UCSC Ensembl
Outerchr1:168917941..168918253hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673800, essv8673801
SamplesNA19238, NA19240
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439414
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer