A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174775



Internal ID1184740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59853916..59854465hg38UCSC Ensembl
Innerchr11:59853916..59854465hg38UCSC Ensembl
Outerchr11:59853565..59854892hg38UCSC Ensembl
chr11:59621389..59621938hg19UCSC Ensembl
Innerchr11:59621389..59621938hg19UCSC Ensembl
Outerchr11:59621038..59622365hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626543
Supporting Variants
SamplesHG01061
Known GenesTCN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174775
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