A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv27e180



Internal ID20122966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757004..766773hg38UCSC Ensembl
chr12:866170..875939hg19UCSC Ensembl
chr12:736431..746200hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389770
hg199770
hg189770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1005879, esv988659
SamplesHuRef
Known GenesWNK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv27e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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