A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720478



Internal ID9954774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105079145..105079521hg38UCSC Ensembl
Outerchr2:105695603..105695979hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968342, essv6950919, essv6669537, essv6972992
SamplesSSM028, SSM029, SSM031, SSM025
Known GenesMRPS9
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)esv2720478
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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