A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871724



Internal ID10268034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23409691..23411373hg38UCSC Ensembl
Outerchr1:23736184..23737866hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745297
Supporting Variants
SamplesSSM091
Known GenesTCEA3
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)essv6871724
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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