A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893549



Internal ID9940990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51652518..51652863hg38UCSC Ensembl
Outerchr6:51517316..51517661hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732071
Supporting Variants
SamplesSSM098
Known GenesPKHD1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6893549
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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