A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945412



Internal ID9703105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52597031..52597396hg38UCSC Ensembl
Outerchr15:52889228..52889593hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749699
Supporting Variants
SamplesSSM023
Known GenesFAM214A
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)essv6945412
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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