A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302707



Internal ID15149655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60867915..60868842hg38UCSC Ensembl
Innerchr8:60868015..60868742hg38UCSC Ensembl
Outerchr8:60867815..60868942hg38UCSC Ensembl
chr8:61780474..61781401hg19UCSC Ensembl
Innerchr8:61780574..61781301hg19UCSC Ensembl
Outerchr8:61780374..61781501hg19UCSC Ensembl
chr8:61943028..61943955hg18UCSC Ensembl
Innerchr8:61943128..61943855hg18UCSC Ensembl
Outerchr8:61942928..61944055hg18UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38928
hg19928
hg18928
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732159, essv7732384
SamplesNA18519, NA19114
Known GenesCHD7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302707
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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