A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750015



Internal ID10330985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90819102..90819571hg38UCSC Ensembl
Outerchr15:91362332..91362801hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857916, essv6945452, essv6862936, essv6891647, essv6728728, essv6895046, essv6913017, essv6824066
SamplesSSM046, SSM079, SSM087, SSM097, SSM088, SSM023, SSM015, SSM098
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)esv2750015
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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