A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132666



Internal ID6563225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172068105..172068760hg38UCSC Ensembl
Innerchr5:172068105..172068760hg38UCSC Ensembl
Outerchr5:172068053..172068804hg38UCSC Ensembl
chr5:171495109..171495764hg19UCSC Ensembl
Innerchr5:171495109..171495764hg19UCSC Ensembl
Outerchr5:171495057..171495808hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607586
Supporting Variants
SamplesNA20757
Known GenesSTK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132666
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