A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386709



Internal ID15233678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102694309..102694538hg38UCSC Ensembl
Innerchr13:102694369..102694469hg38UCSC Ensembl
Outerchr13:102694219..102694579hg38UCSC Ensembl
chr13:103346659..103346888hg19UCSC Ensembl
Innerchr13:103346719..103346819hg19UCSC Ensembl
Outerchr13:103346569..103346929hg19UCSC Ensembl
chr13:102144660..102144889hg18UCSC Ensembl
Innerchr13:102144720..102144820hg18UCSC Ensembl
Outerchr13:102144570..102144930hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38230
hg19230
hg18230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8698687
SamplesNA12878
Known GenesMETTL21C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386709
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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