A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11799952



Internal ID3410773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6024610..6031323hg38UCSC Ensembl
Innerchr5:6024639..6031295hg38UCSC Ensembl
Outerchr5:6024582..6031352hg38UCSC Ensembl
chr5:6024723..6031436hg19UCSC Ensembl
Innerchr5:6024752..6031408hg19UCSC Ensembl
Outerchr5:6024695..6031465hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg386714
hg196714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603911
Supporting Variants
SamplesHG03055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11799952
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