A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726526



Internal ID9960834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195864243..195864735hg38UCSC Ensembl
Outerchr3:195591114..195591606hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973667, essv6739435
SamplesSSM029, SSM052
Known GenesTNK2
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)esv2726526
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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