A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669248



Internal ID9935353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111525069..111530575hg38UCSC Ensembl
Outerchr3:111524698..111530945hg38UCSC Ensembl
Innerchr3:111243916..111249422hg19UCSC Ensembl
Outerchr3:111243545..111249792hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv879e199
Supporting Variantsessv5960510, essv6011278, essv6401671, essv5517388, essv5843068, essv6415136, essv6436052, essv6563142, essv5429577, essv5467020, essv6291168, essv5663739, essv5700853, essv5958646, essv6292246
SamplesHG01060, HG01098, HG01070, HG01069, HG01170, HG01198, HG01183, HG01171, HG01095, HG01197, HG01075, HG00638, HG01174, HG01055, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669248
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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