A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734247



Internal ID9968574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35838286..35838434hg38UCSC Ensembl
Outerchr7:35877896..35878044hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939275
SamplesSSM022
Known GenesSEPT7
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)esv2734247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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