A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678802



Internal ID9944907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70055963..70057091hg38UCSC Ensembl
chr11:69902069..69903197hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5516791, essv5594925, essv5964523, essv6118422, essv5460456
SamplesNA19138, HG00638, NA19439, NA19398, NA19438
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678802
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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