A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630885



Internal ID6671018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118165985..118169847hg38UCSC Ensembl
Innerchr12:118166023..118169809hg38UCSC Ensembl
Outerchr12:118165947..118169885hg38UCSC Ensembl
chr12:118603790..118607652hg19UCSC Ensembl
Innerchr12:118603828..118607614hg19UCSC Ensembl
Outerchr12:118603752..118607690hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383863
hg193863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14615539
SamplesHG01705
Known GenesTAOK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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