A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749825



Internal ID9984109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69300549..69300952hg38UCSC Ensembl
Outerchr15:69592888..69593291hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665335, essv6867696, essv6690088, essv6974751, essv6911386, essv6959983, essv6706580, essv6928281, essv6702872, essv6717214, essv6936602, essv6909287, essv6668426, essv6882648, essv6888315, essv6857874, essv6681961, essv6783991, essv6839037, essv6945428, essv6800652, essv6766018, essv6901715, essv6775919, essv6871052, essv6916505, essv6851879, essv6752865, essv6920654, essv6713621
SamplesSSM008, SSM083, SSM087, SSM039, SSM002, SSM057, SSM023, SSM090, SSM021, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM014, SSM086, SSM033, SSM006, SSM068, SSM040, SSM072, SSM016, SSM005, SSM004, SSM043, SSM030, SSM063, SSM012
Known GenesPAQR5
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)esv2749825
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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