A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811330



Internal ID9867651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52786331..52787844hg38UCSC Ensembl
Outerchr6:52651129..52652642hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732085, esv2732086, esv2732087
Supporting Variants
SamplesSSM076
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)essv6811330
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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