A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718966



Internal ID10302602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55377300..55377467hg38UCSC Ensembl
Outerchr19:55888668..55888835hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895628, essv6793011, essv6713997, essv6721753, essv6961098, essv6892136, essv6824723, essv6692520, essv6717918
SamplesSSM036, SSM079, SSM097, SSM042, SSM026, SSM044, SSM070, SSM043, SSM098
Known GenesTMEM190
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)esv2718966
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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