A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956895



Internal ID10065577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24646282..24646334hg38UCSC Ensembl
Outerchr6:24646510..24646562hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731713, esv2731715
Supporting Variants
SamplesSSM026
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)essv6956895
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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