A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724223



Internal ID10307859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38086055..38086557hg38UCSC Ensembl
Outerchr22:38482062..38482564hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696818, essv6954489, essv6921519, essv6961191, essv6780645, essv6717974
SamplesSSM026, SSM017, SSM067, SSM037, SSM025, SSM043
Known GenesBAIAP2L2
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)esv2724223
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