A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664380



Internal ID9930485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21578126..21578675hg38UCSC Ensembl
Outerchr5:21578089..21578725hg38UCSC Ensembl
Innerchr5:21578235..21578784hg19UCSC Ensembl
Outerchr5:21578198..21578834hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5501748
SamplesNA18868
Known GenesGUSBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664380
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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