A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750173



Internal ID10331143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101085928..101086578hg38UCSC Ensembl
Outerchr15:101626133..101626783hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945469, essv6796474, essv6806725, essv6788225, essv6784026, essv6966530, essv6772532, essv6668445, essv6842906, essv6867744, essv6953723, essv6971304, essv6732567, essv6685478
SamplesSSM071, SSM027, SSM065, SSM074, SSM023, SSM028, SSM084, SSM047, SSM069, SSM089, SSM068, SSM025, SSM034, SSM030
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)esv2750173
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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