A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732541



Internal ID9966860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106567876..106568269hg38UCSC Ensembl
Outerchr6:107015751..107016144hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911424, essv6963843, essv6671209
SamplesSSM027, SSM031, SSM015
Known GenesAIM1
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)esv2732541
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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