A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994892



Internal ID6730842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8808590..8815213hg38UCSC Ensembl
Outerchr17:8711908..8718531hg19UCSC Ensembl
Outerchr17:8652633..8659256hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386624
hg196624
hg186624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564129
SamplesHuRef
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994892
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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