A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718196



Internal ID10301832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12428925..12429236hg38UCSC Ensembl
Outerchr19:12539739..12540050hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801289, essv6839632, essv6874414, essv6901364, essv6693765
SamplesSSM100, SSM083, SSM072, SSM005, SSM091
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)esv2718196
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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