A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698032



Internal ID10112476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316371..168317897hg38UCSC Ensembl
Outerchr6:168717051..168718577hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381527
hg191527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733342, esv2733344
Supporting Variants
SamplesSSM038
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)essv6698032
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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