A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892234



Internal ID19183054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83100570..83281022hg38UCSC Ensembl
Outerchr12:83100570..83281022hg38UCSC Ensembl
Innerchr12:83494349..83674801hg19UCSC Ensembl
Outerchr12:83494349..83674801hg19UCSC Ensembl
Innerchr12:82018480..82198932hg18UCSC Ensembl
Outerchr12:82018480..82198932hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38180453
hg19180453
hg18180453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790600
Samples
Known GenesTMTC2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892234
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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