A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748721



Internal ID10329691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53181485..53182234hg38UCSC Ensembl
Outerchr14:53648203..53648952hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752763, essv6916371, essv6868231, essv6744219
SamplesSSM011, SSM057, SSM016, SSM053
Known Genes
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)esv2748721
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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