A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661818



Internal ID9927923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81389770..81390745hg38UCSC Ensembl
chr5:80685589..80686564hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364692, essv5512788, essv5494161, essv6363141, essv6305233, essv5920680, essv5895783, essv6234352, essv5569888, essv6420788, essv5985614, essv6105276, essv6434316, essv5689058, essv5795848, essv5786144, essv5970870, essv5768205, essv6248891
SamplesHG00671, NA18627, NA20540, NA20759, NA19719, NA18560, HG00422, HG01048, HG00323, HG00313, NA18538, HG00613, HG01148, HG00258, NA19747, NA20790, HG00319, HG00513, NA19223
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661818
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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