A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747719



Internal ID9982003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44555545..44556788hg38UCSC Ensembl
Outerchr1:45021217..45022460hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695932, essv6729652, essv6669443, essv6710616, essv6853277, essv6883273, essv6733505, essv6946522, essv6784898, essv6921754, essv6917472, essv6756573, essv6744967, essv6738836, essv6666919, essv6803709, essv6877131, essv6910080, essv6967968, essv6769556
SamplesSSM065, SSM006, SSM055, SSM042, SSM024, SSM005, SSM012, SSM017, SSM009, SSM028, SSM095, SSM030, SSM047, SSM002, SSM087, SSM052, SSM015, SSM049, SSM018, SSM059
Known GenesRNF220
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)esv2747719
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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