A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795850



Internal ID9852625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2531045..2531445hg38UCSC Ensembl
Outerchr11:2552275..2552675hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744009
Supporting Variants
SamplesSSM071
Known GenesKCNQ1
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)essv6795850
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