A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745204



Internal ID10326174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125849449..125849754hg38UCSC Ensembl
Outerchr11:125719344..125719649hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885040, essv6812179, essv6857113, essv6673070, essv6823573, essv6965687, essv6758189, essv6851079, essv6702391, essv6959166, essv6815416
SamplesSSM059, SSM027, SSM079, SSM087, SSM039, SSM026, SSM031, SSM086, SSM077, SSM076, SSM095
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)esv2745204
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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