A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14219118



Internal ID3588306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82749492..82752243hg38UCSC Ensembl
Innerchr11:82749514..82752222hg38UCSC Ensembl
Outerchr11:82749471..82752265hg38UCSC Ensembl
chr11:82460534..82463285hg19UCSC Ensembl
Innerchr11:82460556..82463264hg19UCSC Ensembl
Outerchr11:82460513..82463307hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg382752
hg192752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627004
Supporting Variants
SamplesHG03172
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14219118
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