A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718441



Internal ID9952732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30462192..30463742hg38UCSC Ensembl
Outerchr19:30953099..30954649hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381551
hg191551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858780, essv6744730, essv6877447, essv6863614, essv6717087, essv6689068, essv6766354, essv6738628, essv6901394, essv6773136
SamplesSSM065, SSM092, SSM053, SSM006, SSM088, SSM035, SSM050, SSM100, SSM063, 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)esv2718441
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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