A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743187



Internal ID9807139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51871312..51871996hg38UCSC Ensembl
Outerchr6:51736110..51736794hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732072
Supporting Variants
SamplesSSM053
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)essv6743187
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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