A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749998



Internal ID10330968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:88940640..88943325hg38UCSC Ensembl
Outerchr15:89483871..89486556hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg382686
hg192686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776102, essv6706593, essv6928292, essv6960016, essv6885367, essv6809729, essv6913016, essv6800675, essv6713381
SamplesSSM075, SSM042, SSM026, SSM019, SSM066, SSM040, SSM072, SSM015, SSM095
Known Genes
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)esv2749998
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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