A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005879



Internal ID6718000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757004..766773hg38UCSC Ensembl
Outerchr12:866170..875939hg19UCSC Ensembl
Outerchr12:736431..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 Variantsdgv27e180
Supporting Variantsessv3563734
SamplesHuRef
Known GenesWNK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005879
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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