A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746028



Internal ID10155438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146809882..146816826hg38UCSC Ensembl
Outerchr6:147131018..147137962hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386945
hg196945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732839
Supporting Variants
SamplesSSM055
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)essv6746028
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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