A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734147



Internal ID10317783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25601745..25601842hg38UCSC Ensembl
Outerchr7:25641365..25641462hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818488, essv6855559, essv6964104, essv6861126, essv6671453
SamplesSSM027, SSM087, SSM088, SSM031, SSM078
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)esv2734147
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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