A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718845



Internal ID9953137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53880226..53880524hg38UCSC Ensembl
Outerchr19:54383480..54383778hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961074, essv6674860, essv6784699, essv6666538, essv6820940, essv6868469, essv6868468, essv6967550
SamplesSSM027, SSM029, SSM026, SSM089, SSM031, SSM068, SSM078
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)esv2718845
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer