A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734452



Internal ID10143732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:164930590..164931261hg38UCSC Ensembl
Outerchr6:165344079..165344750hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733142
Supporting Variants
SamplesSSM049
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)essv6734452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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