A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694760



Internal ID15085312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3727238..3728236hg38UCSC Ensembl
Innerchr5:3727237..3728237hg38UCSC Ensembl
Outerchr5:3726238..3729236hg38UCSC Ensembl
chr5:3727352..3728350hg19UCSC Ensembl
Innerchr5:3727351..3728351hg19UCSC Ensembl
Outerchr5:3726352..3729350hg19UCSC Ensembl
chr5:3780352..3781350hg18UCSC Ensembl
Innerchr5:3781351..3780351hg18UCSC Ensembl
Outerchr5:3779352..3782350hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369424
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694760
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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