A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11244550



Internal ID3589335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179805440..179806347hg38UCSC Ensembl
Innerchr3:179805490..179806297hg38UCSC Ensembl
Outerchr3:179805390..179806397hg38UCSC Ensembl
chr3:179523228..179524135hg19UCSC Ensembl
Innerchr3:179523278..179524085hg19UCSC Ensembl
Outerchr3:179523178..179524185hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598848
Supporting Variants
SamplesHG03175
Known GenesPEX5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11244550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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