A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933316



Internal ID9697898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22658841..22659564hg38UCSC Ensembl
Outerchr1:22985334..22986057hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742989
Supporting Variants
SamplesSSM021
Known GenesC1QB
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)essv6933316
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