A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678123



Internal ID9944228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214855870..214856634hg38UCSC Ensembl
Outerchr1:214855833..214856684hg38UCSC Ensembl
Innerchr1:215029213..215029977hg19UCSC Ensembl
Outerchr1:215029176..215030027hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6515698
SamplesNA18853
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678123
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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