A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678375



Internal ID9944480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102857877..102862416hg38UCSC Ensembl
Outerchr4:102857840..102862466hg38UCSC Ensembl
Innerchr4:103779034..103783573hg19UCSC Ensembl
Outerchr4:103778997..103783623hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384627
hg194627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv965e199
Supporting Variantsessv6121879, essv5537894, essv5774210, essv5932607
SamplesHG00185, HG00253, HG00259, NA11843
Known GenesUBE2D3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678375
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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