A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11848439



Internal ID2247379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:27109942..27124512hg38UCSC Ensembl
Innerchr5:27109954..27124500hg38UCSC Ensembl
Outerchr5:27109930..27124524hg38UCSC Ensembl
chr5:27110049..27124619hg19UCSC Ensembl
Innerchr5:27110061..27124607hg19UCSC Ensembl
Outerchr5:27110037..27124631hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3814571
hg1914571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604459
Supporting Variants
SamplesHG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11848439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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