A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743818



Internal ID10324788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133111068..133111591hg38UCSC Ensembl
Outerchr10:134924572..134925095hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827493, essv6677615, essv6731918, essv6712814, essv6976778, essv6965451, essv6944693, essv6702231, essv6823428, essv6815285, essv6724303, essv6953012, essv6688117
SamplesSSM027, SSM045, SSM079, SSM039, SSM042, SSM023, SSM047, SSM029, SSM035, SSM032, SSM080, SSM077, SSM025
Known GenesGPR123
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)esv2743818
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