A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11366037



Internal ID6517359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20348181..20374336hg38UCSC Ensembl
Innerchr4:20348181..20374336hg38UCSC Ensembl
Outerchr4:20347681..20374836hg38UCSC Ensembl
chr4:20349804..20375959hg19UCSC Ensembl
Innerchr4:20349804..20375959hg19UCSC Ensembl
Outerchr4:20349304..20376459hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3826156
hg1926156
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599841
Supporting Variants
SamplesNA20540
Known GenesSLIT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11366037
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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