A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721354



Internal ID10304990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199665040..199666252hg38UCSC Ensembl
Outerchr2:200529763..200530975hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872052, essv6955509, essv6748116, essv6906575, essv6739210, essv6683206, essv6933773, essv6736326, essv6756845, essv6714668, essv6859725, essv6753854, essv6926065, essv6973177, essv6968426, essv6902939, essv6750930, essv6853912, essv6817117, essv6669695
SamplesSSM059, SSM087, SSM013, SSM050, SSM088, SSM057, SSM058, SSM028, SSM021, SSM029, SSM026, SSM019, SSM031, SSM014, SSM078, SSM091, SSM034, SSM043, SSM052, SSM056
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)esv2721354
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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