A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796109



Internal ID10003623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:83967727..83971511hg38UCSC Ensembl
Outerchr6:84677446..84681230hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg383785
hg193785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732367
Supporting Variants
SamplesSSM009
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)essv6796109
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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