A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947121



Internal ID9710212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129380906..129487872hg38UCSC Ensembl
Outerchr3:129099749..129206715hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38106967
hg19106967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725901
Supporting Variants
SamplesSSM024
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
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)essv6947121
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