A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725939



Internal ID9960245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133414590..133417037hg38UCSC Ensembl
Outerchr3:133133434..133135881hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886440, essv6955837, essv6764576, essv6730206, essv6973555, essv6675815, essv6804905, essv6947125, essv6704380, essv6962555
SamplesSSM027, SSM040, SSM032, SSM024, SSM029, SSM047, SSM063, SSM096, SSM074, SSM026
Known GenesBFSP2
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)esv2725939
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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