A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680412



Internal ID9749982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51874723..51880891hg38UCSC Ensembl
Outerchr6:51739521..51745689hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386169
hg196169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732074
Supporting Variants
SamplesSSM033
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)essv6680412
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer