A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659035



Internal ID9925140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51874326..51875074hg38UCSC Ensembl
chr5:51170160..51170908hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6015636, essv6538788, essv5470576, essv6153161, essv5423462, essv5791615, essv6592257, essv6025737, essv5640646
SamplesHG01052, NA19350, NA19916, NA19383, NA19434, NA19439, NA18505, NA19129, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659035
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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