A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438328



Internal ID4015700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53733879..53747141hg38UCSC Ensembl
Innerchr4:53733879..53747141hg38UCSC Ensembl
Outerchr4:53733633..53747394hg38UCSC Ensembl
chr4:54600046..54613308hg19UCSC Ensembl
Innerchr4:54600046..54613308hg19UCSC Ensembl
Outerchr4:54599800..54613561hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813263
hg1913263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600534
Supporting Variants
SamplesHG03668
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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