A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401331



Internal ID3887569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39537534..39538246hg38UCSC Ensembl
Innerchr4:39537539..39538241hg38UCSC Ensembl
Outerchr4:39537529..39538251hg38UCSC Ensembl
chr4:39539154..39539866hg19UCSC Ensembl
Innerchr4:39539159..39539861hg19UCSC Ensembl
Outerchr4:39539149..39539871hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600285
Supporting Variants
SamplesHG03538
Known GenesMIR1273H, UGDH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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