A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732548



Internal ID9966867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107073251..107073408hg38UCSC Ensembl
Outerchr6:107394455..107394612hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947879
SamplesSSM024
Known GenesBEND3
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)esv2732548
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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