A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14258066



Internal ID1672967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103363023..103433489hg38UCSC Ensembl
Innerchr11:103363041..103433472hg38UCSC Ensembl
Outerchr11:103363006..103433507hg38UCSC Ensembl
chr11:103233751..103304217hg19UCSC Ensembl
Innerchr11:103233769..103304200hg19UCSC Ensembl
Outerchr11:103233734..103304235hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3870467
hg1970467
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627553
Supporting Variants
SamplesHG01531
Known GenesDYNC2H1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14258066
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