A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733001



Internal ID10316637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158701050..158701317hg38UCSC Ensembl
Outerchr6:159122082..159122349hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671307, essv6814440, essv6684103, essv6808534, essv6782328, essv6790625, essv6899801, essv6723357, essv6934857
SamplesSSM100, SSM075, SSM045, SSM021, SSM031, SSM068, SSM077, SSM070, SSM034
Known GenesSYTL3
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)esv2733001
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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