A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749831



Internal ID10330801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69393269..69393803hg38UCSC Ensembl
Outerchr15:69685608..69686142hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673851, essv6953686, essv6681963
SamplesSSM031, SSM033, SSM025
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)esv2749831
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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