A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14605099



Internal ID4606915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111863437..111865507hg38UCSC Ensembl
Innerchr12:111863453..111865492hg38UCSC Ensembl
Outerchr12:111863422..111865523hg38UCSC Ensembl
chr12:112301241..112303311hg19UCSC Ensembl
Innerchr12:112301257..112303296hg19UCSC Ensembl
Outerchr12:112301226..112303327hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630771
Supporting Variants
SamplesHG03894
Known GenesMAPKAPK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14605099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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