A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134037



Internal ID3848343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172802601..172809498hg38UCSC Ensembl
Innerchr5:172802601..172809498hg38UCSC Ensembl
Outerchr5:172802494..172809563hg38UCSC Ensembl
chr5:172229604..172236501hg19UCSC Ensembl
Innerchr5:172229604..172236501hg19UCSC Ensembl
Outerchr5:172229497..172236566hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg386898
hg196898
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607600
Supporting Variants
SamplesHG03479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134037
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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