A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735147



Internal ID9969477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129201160..129201897hg38UCSC Ensembl
Outerchr7:128841001..128841738hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38738
hg19738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939379
SamplesSSM022
Known GenesSMO
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)esv2735147
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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