A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718104



Internal ID9952395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7692164..7692285hg38UCSC Ensembl
Outerchr19:7757050..7757171hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863560, essv6674758
SamplesSSM088, SSM031
Known GenesFCER2
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)esv2718104
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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