A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911426



Internal ID10022865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107710147..107711193hg38UCSC Ensembl
Outerchr6:108031351..108032397hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732553
Supporting Variants
SamplesSSM015
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)essv6911426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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