A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13999299



Internal ID6663609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4824273..4875102hg38UCSC Ensembl
Innerchr11:4824273..4875102hg38UCSC Ensembl
Outerchr11:4823773..4875602hg38UCSC Ensembl
chr11:4845503..4896332hg19UCSC Ensembl
Innerchr11:4845503..4896332hg19UCSC Ensembl
Outerchr11:4845003..4896832hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3850830
hg1950830
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625195
Supporting Variants
SamplesNA20807
Known GenesOR51S1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13999299
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