A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715403



Internal ID10127343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3145166..3146271hg38UCSC Ensembl
Outerchr6:3145400..3146505hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731487
Supporting Variants
SamplesSSM043
Known GenesBPHL
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)essv6715403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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