A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659520



Internal ID9925625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:81505535..81512249hg38UCSC Ensembl
Outerchr3:81505378..81512402hg38UCSC Ensembl
Innerchr3:81554686..81561400hg19UCSC Ensembl
Outerchr3:81554529..81561553hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg387025
hg197025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5468556, essv6332149, essv6224143
SamplesNA19393, NA19469, NA19470
Known GenesGBE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659520
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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