A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723956



Internal ID9958256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17876630..17877332hg38UCSC Ensembl
Outerchr22:18359396..18360098hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv730e201
Supporting Variantsessv6710402, essv6824740, essv6946235, essv6721773, essv6839750, essv6961134
SamplesSSM083, SSM079, SSM041, SSM023, SSM026, SSM044
Known GenesMICAL3
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)esv2723956
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