A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751687



Internal ID10159605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146812463..146819569hg38UCSC Ensembl
Outerchr6:147133599..147140705hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387107
hg197107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741460
Supporting Variants
SamplesSSM057
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)essv6751687
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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