A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111016



Internal ID2667330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156994838..157000033hg38UCSC Ensembl
Innerchr5:156994838..157000033hg38UCSC Ensembl
Outerchr5:156994532..157000246hg38UCSC Ensembl
chr5:156421849..156427044hg19UCSC Ensembl
Innerchr5:156421849..156427044hg19UCSC Ensembl
Outerchr5:156421543..156427257hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385196
hg195196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607307
Supporting Variants
SamplesHG02360
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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