A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748973



Internal ID10329943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:86286884..86287315hg38UCSC Ensembl
Outerchr14:86753228..86753659hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953556, essv6788082, essv6792169, essv6823945, essv6717104, essv6959804, essv6800550, essv6973596, essv6691867, essv6945294, essv6695890, essv6977798, essv6673672, essv6901616, essv6828021, essv6912909, essv6720990, essv6920521
SamplesSSM036, SSM079, SSM023, SSM069, SSM029, SSM026, SSM017, SSM031, SSM044, SSM072, SSM015, SSM080, SSM037, SSM070, SSM025, 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)esv2748973
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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