A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742605



Internal ID10296721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156836604..156837114hg38UCSC Ensembl
Outerchr1:156806396..156806906hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37e201
Supporting Variantsessv6892423
SamplesSSM098
Known GenesNTRK1
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)esv2742605
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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