A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750014



Internal ID10330984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90818771..90820101hg38UCSC Ensembl
Outerchr15:91362001..91363331hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381331
hg191331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717230, essv6735472, essv6936622, essv6857916, essv6945452, essv6820229, essv6911463, essv6758533, essv6748820, essv6862936, essv6891647, essv6752884, essv6713765, essv6761293, essv6763662, essv6665376, essv6728728, essv6668438, essv6755906, essv6749997, essv6766032, essv6895046, essv6913017, essv6824066, essv6696024
SamplesSSM059, SSM046, SSM079, SSM087, SSM097, SSM088, SSM002, SSM057, SSM023, SSM058, SSM021, SSM061, SSM029, SSM062, SSM001, SSM006, SSM015, SSM078, SSM037, SSM043, SSM098, SSM049, SSM056, SSM030, SSM063
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)esv2750014
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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