A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733343



Internal ID10316979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316327..168316629hg38UCSC Ensembl
Outerchr6:168717007..168717309hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1041e201
Supporting Variantsessv6808550, essv6701258, essv6849359, essv6861040
SamplesSSM075, SSM039, SSM088, SSM086
Known GenesDACT2
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)esv2733343
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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