A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665244



Internal ID9931349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142636655..142641938hg38UCSC Ensembl
chr5:142016220..142021503hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385284
hg195284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6414386, essv6427371, essv5790384, essv5515850, essv6186837, essv5914914, essv5497804, essv5590118, essv6423952, essv5827761, essv6040473
SamplesNA19190, NA19917, NA19437, NA19403, NA19440, NA19390, NA19834, NA19248, NA19468, NA19346, NA19431
Known GenesFGF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665244
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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