A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748458



Internal ID9982742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21427381..21427546hg38UCSC Ensembl
Outerchr14:21895540..21895705hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867477, essv6879656, essv6867920, essv6882508, essv6862681
SamplesSSM011, SSM093, SSM088, SSM089, SSM094
Known GenesCHD8
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)esv2748458
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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