A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv37e201



Internal ID22759395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156836583..156837114hg38UCSC Ensembl
chr1:156806375..156806906hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741276, esv2742605, esv2741891
SamplesSSM047, SSM072, SSM098
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)dgv37e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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