A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671729



Internal ID9591148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75484413..75492611hg38UCSC Ensembl
chr11:75195458..75203656hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388199
hg198199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872267
SamplesNA18999
Known GenesGDPD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671729
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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