A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305305



Internal ID14805567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14626144..14626145hg38UCSC Ensembl
Innerchr11:14626116..14626173hg38UCSC Ensembl
Outerchr11:14626115..14626174hg38UCSC Ensembl
chr11:14647690..14647691hg19UCSC Ensembl
Innerchr11:14647662..14647719hg19UCSC Ensembl
Outerchr11:14647661..14647720hg19UCSC Ensembl
chr11:14604266..14604267hg18UCSC Ensembl
Innerchr11:14604295..14604238hg18UCSC Ensembl
Outerchr11:14604237..14604296hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg386017
hg196017
hg186017
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761339, essv7755990, essv7745351, essv7756038, essv7740593, essv7754087, essv7742460, essv7754708, essv7741550, essv7749107
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)esv3305305
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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