A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658414



Internal ID9924519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:167297417..167302694hg38UCSC Ensembl
Outerchr5:167297380..167302744hg38UCSC Ensembl
Innerchr5:166724422..166729699hg19UCSC Ensembl
Outerchr5:166724385..166729749hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385365
hg195365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6330948, essv5644012
SamplesNA18561, NA18557
Known GenesTENM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658414
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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