A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748325



Internal ID10329295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113557069..113558578hg38UCSC Ensembl
Outerchr13:114211384..114212893hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763527, essv6738066, essv6971089, essv6959688, essv6928124, essv6901443, essv6752738, essv6736376, essv6941028, essv6819995, essv6712532, essv6761137, essv6807909, essv6876852, essv6741293, essv6732361, essv6836488, essv6977673, essv6744190, essv6755752, essv6940586, essv6857586, essv6717048
SamplesSSM087, SSM009, SSM050, SSM057, SSM058, SSM028, SSM092, SSM047, SSM061, SSM029, SSM062, SSM026, SSM019, SSM003, SSM001, SSM006, SSM078, SSM053, SSM022, SSM010, SSM043, SSM052, 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)esv2748325
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