A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003486



Internal ID7068592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16267191..16267687hg38UCSC Ensembl
Innerchr12:16420125..16420621hg19UCSC Ensembl
Innerchr12:16311392..16311888hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586591
SamplesHuRef
Known GenesSLC15A5
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003486
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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