A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732017



Internal ID10315653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6413338..6413873hg38UCSC Ensembl
Outerchr10:6455300..6455835hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856639, essv6688006, essv6712704, essv6806119, essv6976482, essv6923958, essv6771734, essv6915835, essv6845675, essv6768787, essv6931455, essv6672579
SamplesSSM008, SSM065, SSM087, SSM074, SSM042, SSM018, SSM029, SSM035, SSM031, SSM085, SSM020, SSM016
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)esv2732017
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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