A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745763



Internal ID10326733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27668923..27669185hg38UCSC Ensembl
Outerchr1:27995434..27995696hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699605, essv6675213, essv6829025, essv6692784, essv6776949, essv6933322, essv6853256, essv6954767, essv6789168
SamplesSSM087, SSM039, SSM021, SSM026, SSM032, SSM067, SSM081, SSM037, SSM070
Known GenesIFI6
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)esv2745763
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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