A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630977



Internal ID6671110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122469383..122475935hg38UCSC Ensembl
chr12:122953930..122960482hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386553
hg196553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621447
SamplesHG03886
Known GenesZCCHC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630977
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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