A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718958



Internal ID10302594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55159550..55160087hg38UCSC Ensembl
Outerchr19:55670918..55671455hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828782, essv6842265, essv6733253, essv6729374, essv6824722, essv6807197, essv6972001, essv6776716, essv6699437, essv6674880, essv6946209, essv6839729, essv6782421, essv6747622, essv6804255
SamplesSSM008, SSM083, SSM046, SSM079, SSM038, SSM073, SSM074, SSM023, SSM028, SSM047, SSM031, SSM066, SSM080, SSM010, SSM055
Known GenesDNAAF3
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)esv2718958
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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