A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605502



Internal ID6645746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78017343..78019393hg38UCSC Ensembl
Innerchr5:78017356..78019381hg38UCSC Ensembl
Outerchr5:78017331..78019406hg38UCSC Ensembl
chr5:77313167..77315217hg19UCSC Ensembl
Innerchr5:77313180..77315205hg19UCSC Ensembl
Outerchr5:77313155..77315230hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949226
SamplesNA19740
Known GenesAP3B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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