A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732577



Internal ID3283073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111568290..111568665hg38UCSC Ensembl
Outerchr6:111889493..111889868hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694235, essv6822516
SamplesSSM037, SSM079
Known GenesTRAF3IP2, TRAF3IP2-AS1
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)esv2732577
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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