A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723524



Internal ID10307160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42078447..42078687hg38UCSC Ensembl
Outerchr21:43498556..43498796hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868651, essv6773351, essv6853108, essv6721905, essv6950445, essv6913913
SamplesSSM024, SSM065, SSM089, SSM044, SSM086, SSM015
Known GenesUMODL1
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)esv2723524
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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