A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629606



Internal ID7016427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56940163..56988848hg38UCSC Ensembl
chr12:57333947..57382632hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3848686
hg1948686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486778, essv14486770, essv14486775, essv14486783, essv14486771, essv14486773, essv14486787, essv14486774, essv14486785, essv14486784, essv14486776, essv14486777, essv14486772, essv14486780, essv14486781, essv14486782, essv14486786, essv14486779
SamplesHG02385, HG01855, NA19448, HG00458, NA19041, HG02180, HG03908, HG02152, NA18644, HG01810, HG02081, HG02408, HG01811, NA19147, HG02982, HG04061, HG02006, HG03686
Known GenesRDH16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629606
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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