A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734172



Internal ID10317808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27743799..27744338hg38UCSC Ensembl
Outerchr7:27783418..27783957hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762771, essv6705120, essv6760212, essv6734512
SamplesSSM061, SSM062, SSM006, SSM049
Known GenesTAX1BP1
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)esv2734172
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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