A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749098



Internal ID10330068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99332354..99332892hg38UCSC Ensembl
Outerchr14:99798691..99799229hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783875, essv6936481
SamplesSSM021, SSM068
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)esv2749098
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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