A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603920



Internal ID6644174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6719857..6733105hg38UCSC Ensembl
Innerchr5:6719885..6733077hg38UCSC Ensembl
Outerchr5:6719829..6733133hg38UCSC Ensembl
chr5:6719970..6733218hg19UCSC Ensembl
Innerchr5:6719998..6733190hg19UCSC Ensembl
Outerchr5:6719942..6733246hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3813249
hg1913249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11802105
SamplesHG01840
Known GenesPAPD7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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