A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12147859



Internal ID627482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178226366..178233748hg38UCSC Ensembl
Innerchr5:178226381..178233733hg38UCSC Ensembl
Outerchr5:178226351..178233763hg38UCSC Ensembl
chr5:177653367..177660749hg19UCSC Ensembl
Innerchr5:177653382..177660734hg19UCSC Ensembl
Outerchr5:177653352..177660764hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387383
hg197383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607710
Supporting Variants
SamplesHG00274
Known GenesPHYKPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12147859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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