A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12004929



Internal ID2733841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104032124..104037271hg38UCSC Ensembl
Innerchr5:104032174..104037221hg38UCSC Ensembl
Outerchr5:104032064..104037331hg38UCSC Ensembl
chr5:103367825..103372972hg19UCSC Ensembl
Innerchr5:103367875..103372922hg19UCSC Ensembl
Outerchr5:103367765..103373032hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606093
Supporting Variants
SamplesHG02402
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12004929
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