A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716773



Internal ID9951062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119470213..119470991hg38UCSC Ensembl
Outerchr1:120012836..120013614hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710668, essv6945706, essv6707334, essv6902616, essv6725941, essv6925773, essv6816703, essv6689336, essv6871784, essv6877532, essv6813240, essv6806931, essv6917524, essv6797547, essv6807451, essv6821276, essv6692868, essv6793389, essv6853374
SamplesSSM036, SSM071, SSM075, SSM046, SSM079, SSM087, SSM013, SSM042, SSM002, SSM041, SSM017, SSM019, SSM001, SSM072, SSM078, SSM037, SSM077, SSM091, SSM012
Known Genes
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)esv2716773
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