A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409614



Internal ID14909888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4767598..4767644hg38UCSC Ensembl
Innerchr1:4767597..4767645hg38UCSC Ensembl
Outerchr1:4767548..4767694hg38UCSC Ensembl
chr1:4827658..4827704hg19UCSC Ensembl
Innerchr1:4827657..4827705hg19UCSC Ensembl
Outerchr1:4827608..4827754hg19UCSC Ensembl
chr1:4727518..4727564hg18UCSC Ensembl
Innerchr1:4727565..4727517hg18UCSC Ensembl
Outerchr1:4727468..4727614hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740928
SamplesNA12878
Known GenesAJAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409614
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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