A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662018



Internal ID9928123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119601320..119603056hg38UCSC Ensembl
chr5:118937015..118938751hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381737
hg191737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5919726, essv5708553, essv6371704, essv6218648, essv6051133, essv5661318, essv5424978
SamplesNA19703, NA19198, NA19921, NA19099, NA19338, NA19435, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662018
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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