A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6875060



Internal ID10271037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219067007..219067326hg38UCSC Ensembl
Outerchr2:219931729..219932048hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721480, esv2721479
Supporting Variants
SamplesSSM092
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)essv6875060
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