A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629455



Internal ID7016277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49281704..49297679hg38UCSC Ensembl
Innerchr12:49281854..49297529hg38UCSC Ensembl
Outerchr12:49281554..49297829hg38UCSC Ensembl
chr12:49675487..49691462hg19UCSC Ensembl
Innerchr12:49675637..49691312hg19UCSC Ensembl
Outerchr12:49675337..49691612hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815976
hg1915976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv274e214
Supporting Variantsessv14477293, essv14477290, essv14477282, essv14477287, essv14477288, essv14477279, essv14477284, essv14477286, essv14477291, essv14477292, essv14477283, essv14477281, essv14477289, essv14477285, essv14477280, essv14477278, essv14477277
SamplesNA12814, NA12750, NA20795, HG01761, HG00243, HG02322, HG01323, HG01615, HG01700, HG00375, HG00623, HG01357, HG01756, HG01776, NA11832, HG00255, NA19676
Known GenesPRPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629455
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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