A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564894



Internal ID6689590
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990745
Supporting Variants
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564894
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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