A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629242



Internal ID7016064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38703965..38709089hg38UCSC Ensembl
Innerchr12:38703974..38709081hg38UCSC Ensembl
Outerchr12:38703957..38709098hg38UCSC Ensembl
chr12:39097767..39102891hg19UCSC Ensembl
Innerchr12:39097776..39102883hg19UCSC Ensembl
Outerchr12:39097759..39102900hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385125
hg195125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14449372
SamplesHG01378
Known GenesCPNE8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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