A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722000



Internal ID10305636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241471863..241472216hg38UCSC Ensembl
Outerchr2:242411278..242411631hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864588, essv6878017, essv6675691, essv6910566, essv6789678, essv6810688, essv6906634, essv6711070, essv6847822, essv6722475
SamplesSSM045, SSM093, SSM042, SSM089, SSM032, SSM014, SSM086, SSM015, SSM076, SSM070
Known GenesFARP2
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)esv2722000
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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