A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727160



Internal ID9961468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9950583..9950906hg38UCSC Ensembl
Outerchr4:9952207..9952530hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804997, essv6683457, essv6829676, essv6854375, essv6670176, essv6848214, essv6973753, essv6889649, essv6718844, essv6754076, essv6697523, essv6817466, essv6962767, essv6794092, essv6813825, essv6880974, essv6906876, essv6802160, essv6864879, essv6860094
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM071, SSM094, SSM097, SSM077, SSM029, SSM073, SSM034, SSM087, SSM038, SSM044, SSM074, SSM014, SSM058, SSM081
Known GenesSLC2A9
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)esv2727160
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