A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11904141



Internal ID2746708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55083307..55099029hg38UCSC Ensembl
Innerchr5:55083319..55099018hg38UCSC Ensembl
Outerchr5:55083296..55099041hg38UCSC Ensembl
chr5:54379135..54394857hg19UCSC Ensembl
Innerchr5:54379147..54394846hg19UCSC Ensembl
Outerchr5:54379124..54394869hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3815723
hg1915723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605093
Supporting Variants
SamplesHG02410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11904141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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