A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733567



Internal ID10317203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170149362..170150514hg38UCSC Ensembl
Outerchr6:170464586..170465738hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381153
hg191153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957308, essv6837603, essv6701283, essv6676743, essv6746066, essv6814485, essv6811445, essv6969554, essv6723403, essv6748878, essv6861061
SamplesSSM083, SSM045, SSM039, SSM088, SSM028, SSM026, SSM032, SSM077, SSM076, SSM055, SSM056
Known Genes
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)esv2733567
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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