A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736218



Internal ID9970550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46465998..46466525hg38UCSC Ensembl
Outerchr10:47082925..47083417hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38528
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842140, essv6944558
SamplesSSM084, SSM023
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)esv2736218
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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