A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373496



Internal ID14873757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25124577..25124591hg38UCSC Ensembl
Innerchr6:25124570..25124595hg38UCSC Ensembl
Outerchr6:25124559..25124609hg38UCSC Ensembl
chr6:25124805..25124819hg19UCSC Ensembl
Innerchr6:25124798..25124823hg19UCSC Ensembl
Outerchr6:25124787..25124837hg19UCSC Ensembl
chr6:25232784..25232798hg18UCSC Ensembl
Innerchr6:25232802..25232777hg18UCSC Ensembl
Outerchr6:25232766..25232816hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928390, essv8928378, essv8928379, essv8928387, essv8928392, essv8928377, essv8928375, essv8928386, essv8928385, essv8928382, essv8928381, essv8928388, essv8928384, essv8928389, essv8928383, essv8928376
SamplesNA18861, NA18508, NA18507, NA19190, NA18870, NA18510, NA18519, NA07347, NA18498, NA19225, NA19108, NA19147, NA18501, NA19102, NA18511, NA18522
Known GenesCMAHP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373496
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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