A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303052



Internal ID14803314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82757481..82757622hg38UCSC Ensembl
Innerchr16:82757551..82757551hg38UCSC Ensembl
Outerchr16:82757381..82757722hg38UCSC Ensembl
chr16:82791086..82791227hg19UCSC Ensembl
Innerchr16:82791156..82791156hg19UCSC Ensembl
Outerchr16:82790986..82791327hg19UCSC Ensembl
chr16:81348587..81348728hg18UCSC Ensembl
Innerchr16:81348657..81348657hg18UCSC Ensembl
Outerchr16:81348487..81348828hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735264, essv7732091, essv7737819, essv7738444, essv7735820, essv7736361, essv7737501, essv7737044, essv7737667, essv7733216, essv7734822, essv7738609, essv7733379, essv7736374, essv7734276, essv7737920, essv7734599
SamplesNA12043, NA12750, NA18570, NA10847, NA18516, NA12828, NA18573, NA12776, NA12044, NA12004, NA07357, NA18592, NA18973, NA12144, NA18572, NA18945, NA12156
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303052
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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