A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656699



Internal ID9922804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68872689..68875726hg38UCSC Ensembl
Outerchr13:68872532..68875879hg38UCSC Ensembl
Innerchr13:69446821..69449858hg19UCSC Ensembl
Outerchr13:69446664..69450011hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5795661
SamplesHG00326
Known GenesLINC00550
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656699
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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