A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14390936



Internal ID4392752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13439760..13446018hg38UCSC Ensembl
Innerchr12:13439760..13446018hg38UCSC Ensembl
Outerchr12:13439260..13446518hg38UCSC Ensembl
chr12:13592694..13598952hg19UCSC Ensembl
Innerchr12:13592694..13598952hg19UCSC Ensembl
Outerchr12:13592194..13599452hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386259
hg196259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628633
Supporting Variants
SamplesNA19752
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14390936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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