A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3253162



Internal ID10926142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29420487..29420828hg38UCSC Ensembl
Outerchr12:29573420..29573761hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7522729
SamplesHuRef
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3253162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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