A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305960



Internal ID14806222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71223769..71223770hg38UCSC Ensembl
Innerchr10:71223729..71223810hg38UCSC Ensembl
Outerchr10:71223728..71223811hg38UCSC Ensembl
chr10:72983526..72983527hg19UCSC Ensembl
Innerchr10:72983486..72983567hg19UCSC Ensembl
Outerchr10:72983485..72983568hg19UCSC Ensembl
chr10:72653532..72653533hg18UCSC Ensembl
Innerchr10:72653573..72653492hg18UCSC Ensembl
Outerchr10:72653491..72653574hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744382, essv7749986, essv7761017
SamplesNA11894, NA12144, NA07346
Known GenesUNC5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305960
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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