A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6774006



Internal ID10180089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120872522..120872672hg38UCSC Ensembl
Outerchr3:120591369..120591519hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725830
Supporting Variants
SamplesSSM066
Known Genes
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)essv6774006
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