A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749764



Internal ID10330734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:62246096..62246497hg38UCSC Ensembl
Outerchr15:62538295..62538696hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792270, essv6953676, essv6920646, essv6966453, essv6681953, essv6824036, essv6959968, essv6758512, essv6924758
SamplesSSM059, SSM027, SSM079, SSM018, SSM026, SSM017, SSM033, SSM070, SSM025
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)esv2749764
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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