A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718357



Internal ID9952648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22585346..22585677hg38UCSC Ensembl
Outerchr19:22768148..22768479hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816318, essv6909776, essv6804209, essv6689054, essv6843528, essv6769258, essv6841609, essv6898366, essv6713939, essv6781487, essv6868400, essv6741888, essv6967476, essv6874433, essv6828716, essv6784645, essv6692446, essv6666633, essv6858758, essv6901381, essv6937319, essv6682546, essv6902228, essv6678863, essv6801309, essv6888782
SamplesSSM100, SSM036, SSM027, SSM064, SSM087, SSM073, SSM042, SSM084, SSM021, SSM096, SSM089, SSM035, SSM032, SSM001, SSM014, SSM033, SSM068, SSM072, SSM080, SSM077, SSM010, SSM091, SSM004, SSM099, SSM052, SSM012
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)esv2718357
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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