A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628406



Internal ID7015230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6433851..6465231hg38UCSC Ensembl
chr12:6543017..6574397hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3831381
hg1931381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14346201
SamplesNA19172
Known GenesCD27, CD27-AS1, TAPBPL, VAMP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628406
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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