A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665083



Internal ID9931188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52948125..52949150hg38UCSC Ensembl
chr13:53522260..53523285hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5824740, essv5854144
SamplesNA12827, HG00155
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665083
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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