A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309659



Internal ID14809924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454681..56454682hg38UCSC Ensembl
Innerchr19:56454655..56454708hg38UCSC Ensembl
Outerchr19:56454654..56454709hg38UCSC Ensembl
chr19:56966050..56966051hg19UCSC Ensembl
Innerchr19:56966024..56966077hg19UCSC Ensembl
Outerchr19:56966023..56966078hg19UCSC Ensembl
chr19:61657862..61657863hg18UCSC Ensembl
Innerchr19:61657889..61657836hg18UCSC Ensembl
Outerchr19:61657835..61657890hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838297, essv7838531, essv7838018, essv7837217, essv7837321
SamplesNA19239, NA19238, NA12891, NA12878, NA19240
Known GenesZNF667
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309659
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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