A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952009



Internal ID10059145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146808827..146815904hg38UCSC Ensembl
Outerchr6:147129963..147137040hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387078
hg197078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732839
Supporting Variants
SamplesSSM025
Known GenesADGB
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)essv6952009
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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