A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586591



Internal ID7057973
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003486
Supporting Variants
SamplesHuRef
Known GenesSLC15A5
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586591
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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