A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv34e180



Internal ID20122973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946182..95949181hg38UCSC Ensembl
chr12:96339960..96342959hg19UCSC Ensembl
chr12:94864091..94867090hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383000
hg193000
hg183000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1006312, esv992407
SamplesHuRef
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv34e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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