A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745095



Internal ID9979379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114526422..114526622hg38UCSC Ensembl
Outerchr11:114397144..114397344hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851063, essv6927863, essv6959149, essv6737732, essv6857095
SamplesSSM007, SSM086, SSM087, SSM019, SSM026
Known GenesNXPE1
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)esv2745095
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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