A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630495



Internal ID7017312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98002080..98019719hg38UCSC Ensembl
chr12:98395858..98413497hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817640
hg1917640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14584598, essv14584593, essv14584594, essv14584589, essv14584599, essv14584595, essv14584596, essv14584591, essv14584590, essv14584592, essv14584597
SamplesHG01537, HG01280, NA11831, HG01122, NA12249, HG01444, NA20790, NA19786, HG00174, NA20807, NA20772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630495
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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