A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749147



Internal ID9983431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101885392..101885488hg38UCSC Ensembl
Outerchr14:102351729..102351825hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959833, essv6673700
SamplesSSM026, SSM031
Known GenesPPP2R5C
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)esv2749147
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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