A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604960



Internal ID6991988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45834632..45923728hg38UCSC Ensembl
Innerchr5:45834782..45923578hg38UCSC Ensembl
Outerchr5:45834482..45923878hg38UCSC Ensembl
chr5:45834734..45923830hg19UCSC Ensembl
Innerchr5:45834884..45923680hg19UCSC Ensembl
Outerchr5:45834584..45923980hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3889097
hg1989097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1100e214
Supporting Variantsessv11892726, essv11892723, essv11892724, essv11892725, essv11892722
SamplesHG04100, NA19317, NA19347, NA19037, NA19324
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604960
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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