A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723903



Internal ID9958203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46183696..46183892hg38UCSC Ensembl
Outerchr21:47603610..47603806hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883218, essv6950478, essv6874663, essv6824918, essv6892258
SamplesSSM091, SSM024, SSM094, SSM097, SSM079
Known GenesSPATC1L
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)esv2723903
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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