A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990728



Internal ID6726694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132147112..132161367hg38UCSC Ensembl
Outerchr12:132631657..132645912hg19UCSC Ensembl
Outerchr12:131197610..131211865hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3814256
hg1914256
hg1814256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565073
SamplesHuRef
Known GenesNOC4L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990728
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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