A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009650



Internal ID6721754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54073519..54134600hg38UCSC Ensembl
Innerchr12:54467303..54528384hg19UCSC Ensembl
Innerchr12:52753570..52814651hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3861082
hg1961082
hg1861082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586312
SamplesHuRef
Known GenesFLJ12825, LOC100240734, LOC100240735, LOC400043
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009650
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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