A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678584



Internal ID9944689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60931543..60933002hg38UCSC Ensembl
chr13:61505677..61507136hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504128, essv6115937, essv6134390, essv6460177, essv6380428, essv6090412, essv5454706, essv5673555, essv5841307
SamplesNA19393, NA19382, NA19313, NA19372, NA19440, HG01190, NA19473, NA19430, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678584
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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