A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11873729



Internal ID1729872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40093038..40094075hg38UCSC Ensembl
Innerchr5:40093059..40094055hg38UCSC Ensembl
Outerchr5:40093018..40094096hg38UCSC Ensembl
chr5:40093140..40094177hg19UCSC Ensembl
Innerchr5:40093161..40094157hg19UCSC Ensembl
Outerchr5:40093120..40094198hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604808
Supporting Variants
SamplesHG01603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11873729
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