A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667629



Internal ID9587048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39576..1039187hg38UCSC Ensembl
chr3:81250..1080871hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38999612
hg19999622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5766913, essv5858438
SamplesHG01048, NA19713
Known GenesCHL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667629
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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