A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14456434



Internal ID4458250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41213501..41244250hg38UCSC Ensembl
Innerchr12:41213501..41244250hg38UCSC Ensembl
Outerchr12:41213001..41244750hg38UCSC Ensembl
chr12:41607303..41638052hg19UCSC Ensembl
Innerchr12:41607303..41638052hg19UCSC Ensembl
Outerchr12:41606803..41638552hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3830750
hg1930750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629308
Supporting Variants
SamplesHG01501
Known GenesPDZRN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14456434
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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