A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988659



Internal ID6724630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757634..765616hg38UCSC Ensembl
chr12:866800..874782hg19UCSC Ensembl
chr12:737061..745043hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387983
hg197983
hg187983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e180
Supporting Variantsessv3585114
SamplesHuRef
Known GenesWNK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988659
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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