A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723040



Internal ID9957340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218431497..218432161hg38UCSC Ensembl
Outerchr1:218604839..218605503hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951718
SamplesSSM004
Known GenesTGFB2
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)esv2723040
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