A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731723



Internal ID9966041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25529658..25529807hg38UCSC Ensembl
Outerchr6:25529886..25530035hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818136, essv6956900, essv6865511, essv6860736, essv6671031, essv6849026, essv6855132, essv6963619
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM086, SSM078
Known GenesLRRC16A
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)esv2731723
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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