A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11937052



Internal ID4420094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67894045..67907168hg38UCSC Ensembl
Innerchr5:67894045..67907168hg38UCSC Ensembl
Outerchr5:67893545..67907668hg38UCSC Ensembl
chr5:67189873..67202996hg19UCSC Ensembl
Innerchr5:67189873..67202996hg19UCSC Ensembl
Outerchr5:67189373..67203496hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3813124
hg1913124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605355
Supporting Variants
SamplesHG03934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11937052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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