A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631310



Internal ID7018119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132713141..132737944hg38UCSC Ensembl
chr12:133289727..133314530hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824804
hg1924804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649891, essv14649893, essv14649892, essv14649894
SamplesHG04131, HG01360, NA12272, HG00628
Known GenesANKLE2, PGAM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631310
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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