A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14220557



Internal ID2366151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84254484..84408965hg38UCSC Ensembl
Innerchr11:84254484..84408965hg38UCSC Ensembl
Outerchr11:84253984..84409465hg38UCSC Ensembl
chr11:83965527..84120008hg19UCSC Ensembl
Innerchr11:83965527..84120008hg19UCSC Ensembl
Outerchr11:83965027..84120508hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38154482
hg19154482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627037
Supporting Variants
SamplesHG02095
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14220557
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