A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328311



Internal ID15175296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30577315..30578513hg38UCSC Ensembl
Innerchr13:30577513..30578315hg38UCSC Ensembl
Outerchr13:30576315..30579513hg38UCSC Ensembl
chr13:31151452..31152650hg19UCSC Ensembl
Innerchr13:31151650..31152452hg19UCSC Ensembl
Outerchr13:31150452..31153650hg19UCSC Ensembl
chr13:30049452..30050650hg18UCSC Ensembl
Innerchr13:30050452..30049650hg18UCSC Ensembl
Outerchr13:30048452..30051650hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688925
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328311
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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