A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28e180



Internal ID20122967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864245..8865271hg38UCSC Ensembl
chr12:9016841..9017867hg19UCSC Ensembl
chr12:8908108..8909134hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381027
hg191027
hg181027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1002966, esv988877
SamplesHuRef
Known GenesA2ML1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv28e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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