A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694732



Internal ID9994007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35249155..35250088hg38UCSC Ensembl
Outerchr22:35645148..35646081hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724180
Supporting Variants
SamplesSSM005
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)essv6694732
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