A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734318



Internal ID10317954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43714500..43720190hg38UCSC Ensembl
Outerchr7:43754099..43759789hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385691
hg195691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814550
SamplesSSM077
Known GenesCOA1
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)esv2734318
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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