A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11541637



Internal ID4092633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98498322..98501854hg38UCSC Ensembl
Innerchr4:98498326..98501850hg38UCSC Ensembl
Outerchr4:98498318..98501858hg38UCSC Ensembl
chr4:99419473..99423005hg19UCSC Ensembl
Innerchr4:99419477..99423001hg19UCSC Ensembl
Outerchr4:99419469..99423009hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383533
hg193533
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601538
Supporting Variants
SamplesHG03717
Known GenesTSPAN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11541637
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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