A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607319



Internal ID6994253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157654161..157683201hg38UCSC Ensembl
Innerchr5:157654161..157683201hg38UCSC Ensembl
Outerchr5:157653661..157683701hg38UCSC Ensembl
chr5:157081169..157110209hg19UCSC Ensembl
Innerchr5:157081169..157110209hg19UCSC Ensembl
Outerchr5:157080669..157110709hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3829041
hg1929041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111537
SamplesNA12762
Known GenesC5orf52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607319
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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