A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710688



Internal ID10123756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156836552..156837001hg38UCSC Ensembl
Outerchr1:156806344..156806793hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718451
Supporting Variants
SamplesSSM042
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)essv6710688
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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