A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12143379



Internal ID6640439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177411541..177415733hg38UCSC Ensembl
Innerchr5:177411561..177415714hg38UCSC Ensembl
Outerchr5:177411522..177415753hg38UCSC Ensembl
chr5:176838542..176842734hg19UCSC Ensembl
Innerchr5:176838562..176842715hg19UCSC Ensembl
Outerchr5:176838523..176842754hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384193
hg194193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607689
Supporting Variants
SamplesNA20798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12143379
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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