A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724933



Internal ID9959235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12310428..12310810hg38UCSC Ensembl
Outerchr3:12351927..12352309hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942404, essv6903009, essv6973343, essv6878030, essv6886355, essv6836670, essv6892775, essv6817192, essv6785566, essv6718645, essv6848398, essv6711091, essv6801996, essv6896203, essv6859818, essv6955646, essv6726355, essv6813613, essv6793839, essv6672920
SamplesSSM083, SSM071, SSM046, SSM011, SSM013, SSM073, SSM093, SSM042, SSM088, SSM023, SSM069, SSM029, SSM096, SSM026, SSM044, SSM078, SSM005, SSM077, SSM099, SSM098
Known GenesPPARG
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)esv2724933
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