A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631312



Internal ID6671439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132735138..132794488hg38UCSC Ensembl
chr12:133311724..133371074hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3859351
hg1959351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649897, essv14649896
SamplesHG04131, HG01360
Known GenesANKLE2, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631312
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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