A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718032



Internal ID10301668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4786119..4786925hg38UCSC Ensembl
Outerchr19:4786131..4786937hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741857, essv6967422, essv6960941, essv6909749, essv6758840, essv6666372, essv6863556, essv6858693, essv6761634, essv6716621, essv6888754, essv6689029, essv6696656, essv6839618, essv6703501, essv6668704, essv6885740, essv6813843, essv6873986
SamplesSSM059, SSM083, SSM027, SSM011, SSM087, SSM039, SSM009, SSM088, SSM061, SSM029, SSM096, SSM026, SSM035, SSM014, SSM006, SSM037, SSM095, SSM052, SSM030
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)esv2718032
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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