A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732201



Internal ID9966519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:63287515..63287818hg38UCSC Ensembl
Outerchr6:63997420..63997723hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690496
SamplesSSM036
Known GenesLGSN
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)esv2732201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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