A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324169



Internal ID14824450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14626139..14626153hg38UCSC Ensembl
Innerchr11:14626139..14626151hg38UCSC Ensembl
Outerchr11:14626127..14626165hg38UCSC Ensembl
chr11:14647685..14647699hg19UCSC Ensembl
Innerchr11:14647685..14647697hg19UCSC Ensembl
Outerchr11:14647673..14647711hg19UCSC Ensembl
chr11:14604261..14604275hg18UCSC Ensembl
Innerchr11:14604273..14604261hg18UCSC Ensembl
Outerchr11:14604249..14604287hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg386017
hg196017
hg186017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8951581, essv8951574, essv8951583, essv8951576, essv8951573, essv8951575, essv8951577, essv8951578, essv8951579, essv8951582
SamplesNA18870, NA18861, NA18520, NA19147, NA19102, NA18502, NA18504, NA11830, NA18499, NA18853
Known GenesPSMA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324169
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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