A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661792



Internal ID9927897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44515598..44525166hg38UCSC Ensembl
chr13:45089734..45099302hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg389569
hg199569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5656898, essv6553216
SamplesHG01167, HG00553
Known GenesTSC22D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661792
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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