A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3254162



Internal ID10927142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864490..8865516hg38UCSC Ensembl
Outerchr12:9017086..9018112hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7523729
SamplesHuRef
Known GenesA2ML1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3254162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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