A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721144



Internal ID10304780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172689625..172691563hg38UCSC Ensembl
Outerchr2:173554353..173556291hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381939
hg191939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714653, essv6953596, essv6844227, essv6753835, essv6752353, essv6880331, essv6750918, essv6910481, essv6946915, essv6817080
SamplesSSM008, SSM024, SSM057, SSM058, SSM085, SSM015, SSM078, SSM004, SSM043, SSM012
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)esv2721144
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