A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863850



Internal ID12969628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243652773..243652794hg38UCSC Ensembl
Innerchr1:243652739..243652828hg38UCSC Ensembl
Outerchr1:243652718..243652849hg38UCSC Ensembl
chr1:243816075..243816096hg19UCSC Ensembl
Innerchr1:243816041..243816130hg19UCSC Ensembl
Outerchr1:243816020..243816151hg19UCSC Ensembl
chr1:241882698..241882719hg18UCSC Ensembl
Innerchr1:241882753..241882664hg18UCSC Ensembl
Outerchr1:241882643..241882774hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427368
Supporting Variants
SamplesNA12005
Known GenesAKT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863850
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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