A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718198



Internal ID10301834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12642512..12643679hg38UCSC Ensembl
Outerchr19:12753326..12754493hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780477, essv6776651, essv6710320, essv6804197, essv6902213, essv6682522, essv6858717, essv6781155, essv6733149, essv6753274, essv6773103, essv6941404, essv6745832, essv6937293, essv6928766
SamplesSSM008, SSM065, SSM087, SSM073, SSM041, SSM057, SSM021, SSM047, SSM019, SSM067, SSM033, SSM066, SSM007, SSM022, 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)esv2718198
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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