A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604154



Internal ID4605970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111044782..111048147hg38UCSC Ensembl
Innerchr12:111044782..111048147hg38UCSC Ensembl
Outerchr12:111044609..111048331hg38UCSC Ensembl
chr12:111482586..111485951hg19UCSC Ensembl
Innerchr12:111482586..111485951hg19UCSC Ensembl
Outerchr12:111482413..111486135hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383366
hg193366
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630747
Supporting Variants
SamplesHG03898
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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