A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657040



Internal ID9923145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71501699..71504676hg38UCSC Ensembl
chr11:71212745..71215722hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382978
hg192978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6180087, essv5481111, essv6426738
SamplesNA19920, HG01353, NA20348
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657040
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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