A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920534



Internal ID10030757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104097956..104098106hg38UCSC Ensembl
Outerchr14:104564293..104564443hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749182, esv2749181, esv2749186, esv2749184
Supporting Variants
SamplesSSM017
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)essv6920534
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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