A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11797702



Internal ID1801391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5375569..5378267hg38UCSC Ensembl
Innerchr5:5375576..5378261hg38UCSC Ensembl
Outerchr5:5375563..5378274hg38UCSC Ensembl
chr5:5375682..5378380hg19UCSC Ensembl
Innerchr5:5375689..5378374hg19UCSC Ensembl
Outerchr5:5375676..5378387hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg382699
hg192699
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603899
Supporting Variants
SamplesHG01678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11797702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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