A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748782



Internal ID5059514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64794063..64794299hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6949377, essv6977755, essv6868298, essv6812429, essv6772348, essv6901590, essv6796314, essv6885269, essv6792147, essv6940636, essv6691845, essv6717083, essv6928164, essv6851659, essv6905166, essv6959758, essv6920497, essv6681852, essv6709737, essv6809606, essv6740420
SamplesSSM065, SSM022, SSM007, SSM013, SSM086, SSM036, SSM033, SSM043, SSM071, SSM024, SSM041, SSM012, SSM017, SSM011, SSM029, SSM095, SSM019, SSM075, SSM026, SSM076, SSM070
Known GenesESR2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2748782
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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