A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782291



Internal ID10186869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107710159..107711188hg38UCSC Ensembl
Outerchr6:108031363..108032392hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732553
Supporting Variants
SamplesSSM068
Known GenesSCML4
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)essv6782291
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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