A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732213



Internal ID10315849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:65406774..65428267hg38UCSC Ensembl
Outerchr6:66116667..66138160hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3821494
hg1921494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719468
SamplesSSM044
Known GenesEYS
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)esv2732213
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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