A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678062



Internal ID9944167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21760334..21760695hg38UCSC Ensembl
Outerchr1:21760297..21760745hg38UCSC Ensembl
Innerchr1:22086827..22087188hg19UCSC Ensembl
Outerchr1:22086790..22087238hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5504319
SamplesNA19311
Known GenesUSP48
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678062
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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