A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714194



Internal ID9948478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31362156..31410550hg38UCSC Ensembl
Outerchr16:31373477..31421871hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3848395
hg1948395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920747, essv6852013, essv6682022
SamplesSSM017, SSM086, SSM033
Known GenesITGAD, ITGAX
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)esv2714194
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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