A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111663



Internal ID1367803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158217374..158228332hg38UCSC Ensembl
Innerchr5:158217424..158227897hg38UCSC Ensembl
Outerchr5:158217324..158228382hg38UCSC Ensembl
chr5:157644382..157655340hg19UCSC Ensembl
Innerchr5:157644432..157654905hg19UCSC Ensembl
Outerchr5:157644332..157655390hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3810959
hg1910959
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607326
Supporting Variants
SamplesHG01205
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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