A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829451



Internal ID10229989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239184735..239184886hg38UCSC Ensembl
Outerchr2:240106431..240106582hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721820, esv2721819
Supporting Variants
SamplesSSM081
Known GenesHDAC4
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)essv6829451
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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