A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718442



Internal ID9952733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30462777..30462998hg38UCSC Ensembl
Outerchr19:30953684..30953905hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858780, essv6863614, essv6689068
SamplesSSM088, SSM035, SSM087
Known GenesZNF536
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)esv2718442
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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