A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847333



Internal ID9899396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236714816..236714969hg38UCSC Ensembl
Outerchr1:236878116..236878269hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725540, esv2725551
Supporting Variants
SamplesSSM086
Known GenesACTN2
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)essv6847333
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