A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660679



Internal ID9926784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113331138..113336619hg38UCSC Ensembl
chr5:112666835..112672316hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg385482
hg195482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6252497, essv5790299, essv6398214, essv6164279, essv5588064, essv5618259, essv5869723, essv5751885, essv6035801, essv5636785, essv5513672, essv5995019, essv6175046
SamplesNA19332, NA18870, NA19381, NA19130, NA19172, NA19921, HG01183, HG01384, NA18933, NA18516, NA18910, NA19108, NA19380
Known GenesMCC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660679
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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