A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726221



Internal ID10309857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:173647003..173659639hg38UCSC Ensembl
Outerchr3:173364793..173377429hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3812637
hg1912637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859996, essv6704405
SamplesSSM088, SSM040
Known GenesNLGN1
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)esv2726221
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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