A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990745



Internal ID6726711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51937788..51945722hg38UCSC Ensembl
Outerchr6:51802586..51810520hg19UCSC Ensembl
Outerchr6:51910545..51918479hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg387935
hg197935
hg187935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564894
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990745
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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