A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304147



Internal ID14804409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62108328..62108329hg38UCSC Ensembl
Innerchr1:62108284..62108373hg38UCSC Ensembl
Outerchr1:62108283..62108374hg38UCSC Ensembl
chr1:62574000..62574001hg19UCSC Ensembl
Innerchr1:62573956..62574045hg19UCSC Ensembl
Outerchr1:62573955..62574046hg19UCSC Ensembl
chr1:62346588..62346589hg18UCSC Ensembl
Innerchr1:62346633..62346544hg18UCSC Ensembl
Outerchr1:62346543..62346634hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752274, essv7756631, essv7756733, essv7757901, essv7748587, essv7762588, essv7742662, essv7756983
SamplesNA18592, NA18960, NA18964, NA18638, NA18537, NA18576, NA18564, NA18609
Known GenesINADL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304147
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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