A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432619



Internal ID14932889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243283909..243283951hg38UCSC Ensembl
Innerchr1:243283911..243283949hg38UCSC Ensembl
Outerchr1:243283907..243283953hg38UCSC Ensembl
chr1:243447211..243447253hg19UCSC Ensembl
Innerchr1:243447213..243447251hg19UCSC Ensembl
Outerchr1:243447209..243447255hg19UCSC Ensembl
chr1:241513834..241513876hg18UCSC Ensembl
Innerchr1:241513836..241513874hg18UCSC Ensembl
Outerchr1:241513832..241513878hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863849
SamplesNA12005
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432619
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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