A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924657



Internal ID10034068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104093479..104093827hg38UCSC Ensembl
Outerchr14:104559816..104560164hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749179
Supporting Variants
SamplesSSM018
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)essv6924657
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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