A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11887040



Internal ID5237839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44486129..44487672hg38UCSC Ensembl
Innerchr5:44486129..44487672hg38UCSC Ensembl
Outerchr5:44486047..44487764hg38UCSC Ensembl
chr5:44486231..44487774hg19UCSC Ensembl
Innerchr5:44486231..44487774hg19UCSC Ensembl
Outerchr5:44486149..44487866hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604924
Supporting Variants
SamplesNA18628
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11887040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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