A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11845016



Internal ID2586431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:25730235..25763776hg38UCSC Ensembl
Innerchr5:25730235..25763776hg38UCSC Ensembl
Outerchr5:25729735..25764276hg38UCSC Ensembl
chr5:25730344..25763885hg19UCSC Ensembl
Innerchr5:25730344..25763885hg19UCSC Ensembl
Outerchr5:25729844..25764385hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3833542
hg1933542
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604424
Supporting Variants
SamplesHG02286
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11845016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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