A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11544850



Internal ID1546666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101159937..101164099hg38UCSC Ensembl
Innerchr4:101159937..101164099hg38UCSC Ensembl
Outerchr4:101159851..101164294hg38UCSC Ensembl
chr4:102081094..102085256hg19UCSC Ensembl
Innerchr4:102081094..102085256hg19UCSC Ensembl
Outerchr4:102081008..102085451hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384163
hg194163
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601591
Supporting Variants
SamplesHG00255
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11544850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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