A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718178



Internal ID9952469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11424321..11424815hg38UCSC Ensembl
Outerchr19:11534990..11535486hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38495
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883046, essv6852759, essv6745787, essv6738594, essv6874410, essv6801285, essv6725474, essv6971903, essv6766326, essv6689037, essv6763988, essv6947351, essv6729300
SamplesSSM007, SSM086, SSM091, SSM035, SSM072, SSM045, SSM094, SSM050, SSM062, SSM028, SSM003, SSM063, SSM046
Known GenesCCDC151
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)esv2718178
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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