A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735941



Internal ID10144642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42078209..42078484hg38UCSC Ensembl
Outerchr21:43498318..43498593hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723520, esv2723516, esv2723519
Supporting Variants
SamplesSSM049
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)essv6735941
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