A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741330



Internal ID10295446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135797239..135797593hg38UCSC Ensembl
Outerchr7:135481987..135482341hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737227
SamplesSSM050
Known Genes
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)esv2741330
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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