A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961726



Internal ID10067638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152108531..152108685hg38UCSC Ensembl
Outerchr1:152081007..152081161hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717984, esv2717995
Supporting Variants
SamplesSSM027
Known GenesTCHH
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)essv6961726
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