A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731109



Internal ID9965426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173068861..173071934hg38UCSC Ensembl
Outerchr5:172495864..172498937hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383074
hg193074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745845, essv6743033, essv6899580, essv6680272, essv6878505, essv6677377
SamplesSSM053, SSM055, SSM033, SSM005, SSM093, SSM100
Known GenesCREBRF
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)esv2731109
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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