A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735247



Internal ID9969577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141465335..141468749hg38UCSC Ensembl
Outerchr7:141165135..141168549hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383415
hg193415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923420, essv6782560, essv6790885
SamplesSSM068, SSM018, SSM070
Known GenesTMEM178B
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)esv2735247
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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