A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11831431



Internal ID1399719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21021713..21269323hg38UCSC Ensembl
chr5:21021822..21269432hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38247611
hg19247611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604301
Supporting Variants
SamplesHG01269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11831431
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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