A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788084



Internal ID9845506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88789538..88789694hg38UCSC Ensembl
Outerchr14:89255882..89256038hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748998
Supporting Variants
SamplesSSM069
Known GenesEML5
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)essv6788084
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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