A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717937



Internal ID10301573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3177954..3178246hg38UCSC Ensembl
Outerchr19:3177952..3178244hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863547, essv6674735, essv6868356, essv6828685, essv6960922, essv6820818, essv6858678, essv6967405, essv6888752, essv6678834
SamplesSSM027, SSM087, SSM088, SSM096, SSM026, SSM089, SSM032, SSM031, SSM078, SSM080
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)esv2717937
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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