A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731643



Internal ID10315279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18565429..18565996hg38UCSC Ensembl
Outerchr6:18565660..18566227hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947716, essv6822382, essv6778101, essv6798750, essv6855121
SamplesSSM024, SSM079, SSM087, SSM067, SSM072
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)esv2731643
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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