A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714353



Internal ID10126399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156836551..156837020hg38UCSC Ensembl
Outerchr1:156806343..156806812hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718451
Supporting Variants
SamplesSSM043
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)essv6714353
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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