A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830115



Internal ID10230586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24878890..24879197hg38UCSC Ensembl
Outerchr6:24879118..24879425hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731717
Supporting Variants
SamplesSSM081
Known GenesFAM65B
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)essv6830115
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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