A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717357



Internal ID10300993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75066982..75067889hg38UCSC Ensembl
Outerchr18:72778938..72779845hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744586, essv6741757, essv6766232, essv6770264, essv6858476, essv6717656, essv6758768, essv6769140, essv6971711, essv6843318, essv6772918, essv6928633, essv6902064, essv6666105, essv6913708
SamplesSSM059, SSM064, SSM065, SSM087, SSM002, SSM028, SSM084, SSM029, SSM019, SSM001, SSM053, SSM043, SSM052, SSM063, 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)esv2717357
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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