A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749997



Internal ID9984281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:88855515..88855764hg38UCSC Ensembl
Outerchr15:89398746..89398995hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945449, essv6690210, essv6673878
SamplesSSM031, SSM005, SSM023
Known GenesACAN
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)esv2749997
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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