A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718116



Internal ID10301752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8098233..8098840hg38UCSC Ensembl
Outerchr19:8163117..8163724hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877417, essv6741863, essv6689033, essv6901357, essv6699381, essv6905800, essv6858704, essv6967433, essv6745743, essv6928754, essv6813943, essv6666332, essv6781077
SamplesSSM100, SSM008, SSM027, SSM087, SSM038, SSM013, SSM009, SSM092, SSM019, SSM035, SSM007, SSM004, SSM052
Known GenesFBN3
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)esv2718116
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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