A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828036



Internal ID10228715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104097960..104098228hg38UCSC Ensembl
Outerchr14:104564297..104564565hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749182, esv2749188, esv2749186, esv2749184, esv2749187
Supporting Variants
SamplesSSM080
Known GenesASPG
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)essv6828036
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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