A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12083749



Internal ID2085565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143387853..143388983hg38UCSC Ensembl
Innerchr5:143387853..143388983hg38UCSC Ensembl
Outerchr5:143387623..143389261hg38UCSC Ensembl
chr5:142767418..142768548hg19UCSC Ensembl
Innerchr5:142767418..142768548hg19UCSC Ensembl
Outerchr5:142767188..142768826hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607020
Supporting Variants
SamplesNA18635
Known GenesNR3C1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12083749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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