A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721193



Internal ID9955489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178443386..178450224hg38UCSC Ensembl
Outerchr2:179308113..179314951hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386839
hg196839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672332, essv6762095, essv6844235, essv6817094, essv6764447, essv6953651, essv6859701
SamplesSSM088, SSM062, SSM085, SSM078, SSM005, SSM004, SSM063
Known GenesMIR548N, PRKRA
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)esv2721193
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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