A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11830401



Internal ID2604367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:20020352..20021695hg38UCSC Ensembl
Innerchr5:20020368..20021679hg38UCSC Ensembl
Outerchr5:20020336..20021711hg38UCSC Ensembl
chr5:20020461..20021804hg19UCSC Ensembl
Innerchr5:20020477..20021788hg19UCSC Ensembl
Outerchr5:20020445..20021820hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg381344
hg191344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604280
Supporting Variants
SamplesHG02308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11830401
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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