A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11612201



Internal ID570950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133509793..133535704hg38UCSC Ensembl
Innerchr4:133509794..133535703hg38UCSC Ensembl
Outerchr4:133509792..133535705hg38UCSC Ensembl
chr4:134430948..134456859hg19UCSC Ensembl
Innerchr4:134430949..134456858hg19UCSC Ensembl
Outerchr4:134430947..134456860hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3825912
hg1925912
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602286
Supporting Variants
SamplesHG00251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11612201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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