A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370243



Internal ID15217219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30391515..30392913hg38UCSC Ensembl
Innerchr13:30391913..30392515hg38UCSC Ensembl
Outerchr13:30390515..30393913hg38UCSC Ensembl
chr13:30965652..30967050hg19UCSC Ensembl
Innerchr13:30966050..30966652hg19UCSC Ensembl
Outerchr13:30964652..30968050hg19UCSC Ensembl
chr13:29863652..29865050hg18UCSC Ensembl
Innerchr13:29864652..29864050hg18UCSC Ensembl
Outerchr13:29862652..29866050hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688923
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370243
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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