A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663254



Internal ID9582673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:116512324..116520286hg38UCSC Ensembl
Outerchr6:116512287..116520336hg38UCSC Ensembl
Innerchr6:116833487..116841449hg19UCSC Ensembl
Outerchr6:116833450..116841499hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg388050
hg198050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5637454
SamplesHG00590
Known GenesFAM26E, TRAPPC3L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663254
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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