A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585114



Internal ID6709810
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988659
Supporting Variants
SamplesHuRef
Known GenesWNK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585114
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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