A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749815



Internal ID9984099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68298316..68299660hg38UCSC Ensembl
Outerchr15:68590654..68591998hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873990, essv6879785
SamplesSSM093, SSM091
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)esv2749815
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer