A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886095



Internal ID10281146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197924890..197925179hg38UCSC Ensembl
Outerchr1:197894020..197894309hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721106, esv2721095
Supporting Variants
SamplesSSM096
Known GenesLHX9
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)essv6886095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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