A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12149113



Internal ID6106549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178686433..178697302hg38UCSC Ensembl
Innerchr5:178686583..178697152hg38UCSC Ensembl
Outerchr5:178686283..178697452hg38UCSC Ensembl
chr5:178113434..178124303hg19UCSC Ensembl
Innerchr5:178113584..178124153hg19UCSC Ensembl
Outerchr5:178113284..178124453hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810870
hg1910870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607721
Supporting Variants
SamplesNA19648
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12149113
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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