A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724117



Internal ID9958418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226978008..226978497hg38UCSC Ensembl
Outerchr1:227165709..227166198hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946659, essv6686307, essv6878331, essv6941988, essv6929248, essv6918251, essv6804557, essv6816807, essv6836355, essv6679350, essv6697123, essv6910226, essv6785174, essv6722173, essv6847308, essv6689423, essv6793486, essv6692963, essv6868863
SamplesSSM036, SSM083, SSM071, SSM024, SSM045, SSM038, SSM074, SSM023, SSM090, SSM069, SSM035, SSM003, SSM086, SSM033, SSM020, SSM015, SSM078, SSM037, SSM012
Known GenesADCK3
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)esv2724117
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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