A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733589



Internal ID10317225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170214297..170217850hg38UCSC Ensembl
Outerchr6:170529530..170530406hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383554
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1056e201
Supporting Variantsessv6841416, essv6719599, essv6964016, essv6701285, essv6727283, essv6774745, essv6826580, essv6731045, essv6782385, essv6799040, essv6778364
SamplesSSM027, SSM046, SSM039, SSM084, SSM047, SSM067, SSM044, SSM066, SSM068, SSM072, SSM080
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)esv2733589
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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