A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670678



Internal ID9936783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55183563..55184045hg38UCSC Ensembl
chr5:54479391..54479873hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6276940, essv6309299, essv6371578, essv5782749, essv6414426, essv5879184, essv6381587, essv5436408, essv5998867, essv6349053, essv5415500, essv5716607
SamplesNA18510, NA19446, NA19379, NA19372, NA19471, NA19403, NA18573, NA19114, NA11894, NA19435, NA19376, NA07000
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670678
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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