A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630886



Internal ID7017700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118286872..118303039hg38UCSC Ensembl
Innerchr12:118286898..118303014hg38UCSC Ensembl
Outerchr12:118286847..118303065hg38UCSC Ensembl
chr12:118724677..118740844hg19UCSC Ensembl
Innerchr12:118724703..118740819hg19UCSC Ensembl
Outerchr12:118724652..118740870hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3816168
hg1916168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14615540
SamplesHG03129
Known GenesTAOK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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