A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308455



Internal ID14808718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42817603..42817604hg38UCSC Ensembl
Innerchr1:42817587..42817620hg38UCSC Ensembl
Outerchr1:42817586..42817621hg38UCSC Ensembl
chr1:43283274..43283275hg19UCSC Ensembl
Innerchr1:43283258..43283291hg19UCSC Ensembl
Outerchr1:43283257..43283292hg19UCSC Ensembl
chr1:43055861..43055862hg18UCSC Ensembl
Innerchr1:43055878..43055845hg18UCSC Ensembl
Outerchr1:43055844..43055879hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38114
hg19114
hg18114
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842093, essv7842723
SamplesNA19238, NA19240
Known GenesERMAP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308455
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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