A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731589



Internal ID10315225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11036819..11037112hg38UCSC Ensembl
Outerchr6:11037052..11037345hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887319, essv6680311, essv6855110
SamplesSSM087, SSM033, SSM012
Known GenesELOVL2
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)esv2731589
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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