A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338168



Internal ID3223353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2971221..2981162hg38UCSC Ensembl
Innerchr12:2971237..2981146hg38UCSC Ensembl
Outerchr12:2971205..2981178hg38UCSC Ensembl
chr12:3080387..3090328hg19UCSC Ensembl
Innerchr12:3080403..3090312hg19UCSC Ensembl
Outerchr12:3080371..3090344hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389942
hg199942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628334
Supporting Variants
SamplesHG02836
Known GenesTEAD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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