A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779748



Internal ID9838567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77269515..77269958hg38UCSC Ensembl
Outerchr14:77735858..77736301hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748901
Supporting Variants
SamplesSSM067
Known GenesNGB
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)essv6779748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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