A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673647



Internal ID9593066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96206879..96208310hg38UCSC Ensembl
chr13:96859133..96860564hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5619444, essv5518065, essv6406830
SamplesNA19404, NA19377, NA19374
Known GenesHS6ST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673647
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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