A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718041



Internal ID9952332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5274321..5274811hg38UCSC Ensembl
Outerchr19:5274332..5274822hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696658, essv6932913, essv6925322, essv6703503, essv6801276, essv6828693, essv6946084, essv6729291, essv6674747, essv6784614, essv6971890, essv6960944, essv6839621, essv6937277, essv6941388, essv6902194
SamplesSSM022, SSM031, SSM072, SSM020, SSM039, SSM083, SSM012, SSM028, SSM021, SSM037, SSM046, SSM023, SSM068, SSM026, SSM018, SSM080
Known GenesPTPRS
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)esv2718041
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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