A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678180



Internal ID9944285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77543298..77545010hg38UCSC Ensembl
chr11:77254343..77256055hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381713
hg191713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6295183, essv6214275, essv6435427, essv6166752, essv5698263, essv6154501, essv5884393, essv6021621, essv6502863, essv6046962, essv5512094, essv5552055, essv6223146, essv5658362, essv5639763, essv6234873, essv5417107
SamplesHG01462, NA19190, NA18510, NA19379, NA19382, NA19445, NA19247, NA19461, NA19453, NA18523, NA19469, NA20296, NA19401, NA19375, NA19390, NA18909, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678180
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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