A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733118



Internal ID9967440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163322944..163323217hg38UCSC Ensembl
Outerchr6:163743976..163744249hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719572, essv6889088, essv6676704, essv6730999, essv6698021, essv6845072
SamplesSSM032, SSM012, SSM085, SSM047, SSM038, SSM044
Known GenesPACRG-AS1
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)esv2733118
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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