A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717045



Internal ID10300681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47396193..47396603hg38UCSC Ensembl
Outerchr18:44922564..44922974hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945877, essv6674440, essv6945607, essv6784422, essv6858421, essv6788605, essv6796877, essv6925127, essv6902037, essv6776463, essv6824425, essv6828500, essv6703304, essv6913434
SamplesSSM071, SSM079, SSM087, SSM039, SSM023, SSM018, SSM069, SSM003, SSM031, SSM066, SSM068, SSM015, SSM080, 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)esv2717045
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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