A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879603



Internal ID5130213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40982040..40985447hg38UCSC Ensembl
Innerchr5:40982070..40985417hg38UCSC Ensembl
Outerchr5:40982010..40985477hg38UCSC Ensembl
chr5:40982142..40985549hg19UCSC Ensembl
Innerchr5:40982172..40985519hg19UCSC Ensembl
Outerchr5:40982112..40985579hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604834
Supporting Variants
SamplesNA18566
Known GenesC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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