A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443594



Internal ID15290547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761315..35763013hg38UCSC Ensembl
Innerchr13:35762013..35762315hg38UCSC Ensembl
Outerchr13:35760315..35764013hg38UCSC Ensembl
chr13:36335452..36337150hg19UCSC Ensembl
Innerchr13:36336150..36336452hg19UCSC Ensembl
Outerchr13:36334452..36338150hg19UCSC Ensembl
chr13:35233452..35235150hg18UCSC Ensembl
Innerchr13:35234452..35234150hg18UCSC Ensembl
Outerchr13:35232452..35236150hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv980e59
Supporting Variantsessv8688945
SamplesNA12891
Known GenesMIR548F5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443594
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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