A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11906209



Internal ID1614382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55612747..55615206hg38UCSC Ensembl
Innerchr5:55612747..55615206hg38UCSC Ensembl
Outerchr5:55612439..55615569hg38UCSC Ensembl
chr5:54908575..54911034hg19UCSC Ensembl
Innerchr5:54908575..54911034hg19UCSC Ensembl
Outerchr5:54908267..54911397hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382460
hg192460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605102
Supporting Variants
SamplesHG01497
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11906209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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