A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11541640



Internal ID5201164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98586417..98592138hg38UCSC Ensembl
Innerchr4:98586417..98592138hg38UCSC Ensembl
Outerchr4:98585917..98592638hg38UCSC Ensembl
chr4:99507568..99513289hg19UCSC Ensembl
Innerchr4:99507568..99513289hg19UCSC Ensembl
Outerchr4:99507068..99513789hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg385722
hg195722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601541
Supporting Variants
SamplesNA18614
Known GenesTSPAN5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11541640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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