A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741355



Internal ID10148572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:98356076..98356565hg38UCSC Ensembl
Outerchr14:98822413..98822902hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749092
Supporting Variants
SamplesSSM052
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)essv6741355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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