A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3251940



Internal ID11271606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71962902..71964466hg38UCSC Ensembl
Outerchr12:72356682..72358246hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7521507
SamplesHuRef
Known GenesTPH2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3251940
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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