A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732249



Internal ID9966568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:68661351..68661551hg38UCSC Ensembl
Outerchr6:69371243..69371443hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929017, essv6760070
SamplesSSM061, SSM003
Known GenesBAI3
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)esv2732249
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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