A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660307



Internal ID9579726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83655422..83661458hg38UCSC Ensembl
Outerchr5:83655265..83661611hg38UCSC Ensembl
Innerchr5:82951241..82957277hg19UCSC Ensembl
Outerchr5:82951084..82957430hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386347
hg196347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6284975, essv5768425
SamplesNA19385, NA19445
Known GenesHAPLN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660307
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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