A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733578



Internal ID10317214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170169067..170171349hg38UCSC Ensembl
Outerchr6:170484291..170486573hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382283
hg192283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1055e201
Supporting Variantsessv6964014, essv6723404, essv6694355, essv6934915, essv6705189, essv6939200, essv6723405, essv6881550, essv6975096, essv6919016, essv6833935, essv6975094, essv6799039, essv6794835
SamplesSSM071, SSM027, SSM045, SSM021, SSM029, SSM017, SSM094, SSM040, SSM072, SSM082, SSM037, SSM022
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)esv2733578
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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