A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723955



Internal ID9958255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17834805..17835591hg38UCSC Ensembl
Outerchr22:18317571..18318357hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824739, essv6804263, essv6898447, essv6738683, essv6699445, essv6858878, essv6954455, essv6744790, essv6815165, essv6842387, essv6816393, essv6874529, essv6946234
SamplesSSM010, SSM053, SSM091, SSM099, SSM025, SSM050, SSM077, SSM009, SSM073, SSM087, SSM038, SSM023, SSM079
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)esv2723955
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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