A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628603



Internal ID7015427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12153209..12158108hg38UCSC Ensembl
chr12:12306143..12311042hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14385644, essv14385645
SamplesHG03803, HG04216
Known GenesLRP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628603
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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