A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438331



Internal ID5831593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54141348..54146760hg38UCSC Ensembl
Innerchr4:54141348..54146760hg38UCSC Ensembl
Outerchr4:54141055..54146984hg38UCSC Ensembl
chr4:55007515..55012927hg19UCSC Ensembl
Innerchr4:55007515..55012927hg19UCSC Ensembl
Outerchr4:55007222..55013151hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385413
hg195413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600536
Supporting Variants
SamplesNA19206
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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