A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726327



Internal ID10309963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185794225..185794500hg38UCSC Ensembl
Outerchr3:185512013..185512288hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829603, essv6903134, essv6889592, essv6821812, essv6781569, essv6955894, essv6704419, essv6802103, essv6906813, essv6840608, essv6942587, essv6730249, essv6718775, essv6770189, essv6726480, essv6736492, essv6896307, essv6700368, essv6860014, essv6689853, essv6854260, essv6670053, essv6882475
SamplesSSM036, SSM046, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM050, SSM088, SSM023, SSM084, SSM047, SSM026, SSM031, SSM044, SSM014, SSM068, SSM081, SSM040, SSM099, SSM012
Known GenesIGF2BP2
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)esv2726327
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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