A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836832



Internal ID10006032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75407846..75408776hg38UCSC Ensembl
Outerchr14:75874549..75875479hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748873
Supporting Variants
SamplesSSM010
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)essv6836832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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