A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715893



Internal ID10299529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37745545..37746132hg38UCSC Ensembl
Outerchr17:36105536..36106123hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941082, essv6924992, essv6858249, essv6674267, essv6772766, essv6945729
SamplesSSM065, SSM087, SSM023, SSM018, SSM031, SSM022
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)esv2715893
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