A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673801



Internal ID14687772
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 StatusS
Merged Variantsesv3439414
Supporting Variants
SamplesNA19238
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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