A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5830819



Internal ID8808222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48307582..48308381hg38UCSC Ensembl
chr13:48881718..48882517hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675818
Supporting Variants
SamplesHG00124
Known GenesRB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5830819
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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