A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683253



Internal ID9754181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2269946..2270240hg38UCSC Ensembl
Outerchr3:2311630..2311924hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724792, esv2724793
Supporting Variants
SamplesSSM034
Known GenesCNTN4
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)essv6683253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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