A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748709



Internal ID10329679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49652179..49652324hg38UCSC Ensembl
Outerchr14:50118897..50119042hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959745, essv6673625, essv6867508, essv6966256, essv6857646
SamplesSSM027, SSM087, SSM026, SSM089, SSM031
Known GenesPOLE2
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)esv2748709
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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