A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676045



Internal ID9942150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104204076..104208446hg38UCSC Ensembl
Outerchr1:104203919..104208599hg38UCSC Ensembl
Innerchr1:104746698..104751068hg19UCSC Ensembl
Outerchr1:104746541..104751221hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384681
hg194681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6063561
SamplesNA18612
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676045
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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