A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678579



Internal ID9944684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96367445..96370742hg38UCSC Ensembl
chr5:95703149..95706446hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg383298
hg193298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1029e199
Supporting Variantsessv5702074, essv6499993, essv6483300, essv6021922, essv6054819, essv5936951
SamplesNA19466, NA19313, HG01048, NA19347, HG01551, NA19331
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678579
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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