A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730911



Internal ID3281407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150062163..150062600hg38UCSC Ensembl
Outerchr5:149441726..149442163hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848888, essv6963471, essv6774478, essv6938848, essv6743014, essv6896653, essv6782045, essv6814191, essv6700890, essv6872611, essv6865406, essv6802451, essv6711701, essv6708286, essv6854277, essv6947668, essv6690290, essv6907371
SamplesSSM022, SSM027, SSM053, SSM086, SSM036, SSM091, SSM099, SSM042, SSM089, SSM039, SSM024, SSM041, SSM077, SSM011, SSM066, SSM073, SSM068, SSM014
Known GenesCSF1R
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)esv2730911
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