A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715869



Internal ID10299505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35351977..35440321hg38UCSC Ensembl
Outerchr17:33678996..33767340hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3888345
hg1988345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769019, essv6732835, essv6713603, essv6839475, essv6728967, essv6863182, essv6710048, essv6788475, essv6877181, essv6743432, essv6717498, essv6831965, essv6874156
SamplesSSM046, SSM064, SSM042, SSM088, SSM041, SSM092, SSM047, SSM069, SSM081, SSM007, SSM010, SSM091, SSM043
Known GenesSLFN11, SLFN12, SLFN13
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)esv2715869
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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