A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725958



Internal ID9960264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:136867104..136867250hg38UCSC Ensembl
Outerchr3:136585946..136586092hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669990, essv6910674
SamplesSSM031, SSM015
Known GenesNCK1
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)esv2725958
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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