A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719033



Internal ID10302669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56338852..56339932hg38UCSC Ensembl
Outerchr19:56850221..56851301hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674890, essv6747627, essv6788891, essv6885811, essv6678935, essv6756395, essv6852881, essv6773199, essv6735856, essv6717676, essv6738677, essv6758912, essv6815087, essv6810192, essv6721760, essv6666575, essv6764059
SamplesSSM059, SSM075, SSM065, SSM009, SSM050, SSM058, SSM069, SSM029, SSM062, SSM032, SSM031, SSM044, SSM086, SSM006, SSM055, SSM095, SSM049
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)esv2719033
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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