A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730776



Internal ID10314412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131468495..131468662hg38UCSC Ensembl
Outerchr5:130804188..130804355hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723073, essv6730723, essv6963443, essv6782030, essv6841078, essv6854119, essv6865392, essv6854980
SamplesSSM027, SSM045, SSM011, SSM087, SSM084, SSM047, SSM089, SSM068
Known GenesRAPGEF6
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)esv2730776
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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