A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12152958



Internal ID5675328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180582716..180588475hg38UCSC Ensembl
Innerchr5:180582866..180588325hg38UCSC Ensembl
Outerchr5:180582566..180588625hg38UCSC Ensembl
chr5:180009716..180015475hg19UCSC Ensembl
Innerchr5:180009866..180015325hg19UCSC Ensembl
Outerchr5:180009566..180015625hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385760
hg195760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607785
Supporting Variants
SamplesNA19079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12152958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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