A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11784548



Internal ID6784886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1681698..1682734hg38UCSC Ensembl
Innerchr5:1681748..1682684hg38UCSC Ensembl
Outerchr5:1681608..1682824hg38UCSC Ensembl
chr5:1681813..1682849hg19UCSC Ensembl
Innerchr5:1681863..1682799hg19UCSC Ensembl
Outerchr5:1681723..1682939hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603819
Supporting Variants
SamplesNA20882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11784548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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