A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726024



Internal ID9960330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146469161..146544126hg38UCSC Ensembl
Outerchr3:146186948..146261913hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3874966
hg1974966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697445, essv6675828, essv6699565, essv6766989, essv6889560, essv6793966, essv6951224, essv6829582, essv6833164, essv6926222, essv6836762, essv6686666, essv6849498, essv6748240, essv6880895, essv6825673, essv6718742, essv6704389, essv6938312, essv6700329, essv6883718, essv6730218, essv6962570, essv6907040
SamplesSSM083, SSM071, SSM027, SSM011, SSM064, SSM038, SSM097, SSM039, SSM047, SSM019, SSM035, SSM094, SSM032, SSM044, SSM001, SSM006, SSM081, SSM040, SSM082, SSM080, SSM022, SSM095, SSM025, SSM056
Known GenesPLSCR1, PLSCR2
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)esv2726024
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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