A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732751



Internal ID9967072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136273318..136275842hg38UCSC Ensembl
Outerchr6:136594456..136596980hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382525
hg192525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704454, essv6849283, essv6974950, essv6757474, essv6899783
SamplesSSM086, SSM006, SSM100, SSM029, SSM059
Known GenesBCLAF1
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)esv2732751
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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