A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328135



Internal ID15175120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11026425..11026444hg38UCSC Ensembl
Innerchr12:11026421..11026448hg38UCSC Ensembl
Outerchr12:11026402..11026467hg38UCSC Ensembl
chr12:11179024..11179043hg19UCSC Ensembl
Innerchr12:11179020..11179047hg19UCSC Ensembl
Outerchr12:11179001..11179066hg19UCSC Ensembl
chr12:11070291..11070310hg18UCSC Ensembl
Innerchr12:11070314..11070287hg18UCSC Ensembl
Outerchr12:11070268..11070333hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9655402, essv9655424, essv9655413
SamplesNA07346, NA07347, NA12872
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328135
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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