A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724120



Internal ID9958421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29131487..29131695hg38UCSC Ensembl
Outerchr22:29527475..29527683hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753382
SamplesSSM057
Known GenesKREMEN1
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)esv2724120
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