A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302925



Internal ID4304741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126290636..126292851hg38UCSC Ensembl
Innerchr11:126290641..126292846hg38UCSC Ensembl
Outerchr11:126290631..126292856hg38UCSC Ensembl
chr11:126160531..126162746hg19UCSC Ensembl
Innerchr11:126160536..126162741hg19UCSC Ensembl
Outerchr11:126160526..126162751hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628001
Supporting Variants
SamplesNA18593
Known GenesTIRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302925
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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