A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724102



Internal ID10307738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27027615..27027814hg38UCSC Ensembl
Outerchr22:27423578..27423777hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913782, essv6961175, essv6839774, essv6858906, essv6852933, essv6967623, essv6863738, essv6686000
SamplesSSM083, SSM027, SSM087, SSM088, SSM026, SSM086, SSM015, SSM034
Known Genes
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)esv2724102
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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