A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401380



Internal ID4076324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39539406..39544119hg38UCSC Ensembl
Innerchr4:39539406..39544119hg38UCSC Ensembl
Outerchr4:39539162..39544369hg38UCSC Ensembl
chr4:39541026..39545739hg19UCSC Ensembl
Innerchr4:39541026..39545739hg19UCSC Ensembl
Outerchr4:39540782..39545989hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384714
hg194714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600286
Supporting Variants
SamplesHG03708
Known GenesMIR1273H, UGDH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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