A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670800



Internal ID9936905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192238028..192251587hg38UCSC Ensembl
Outerchr1:192237991..192251637hg38UCSC Ensembl
Innerchr1:192207158..192220717hg19UCSC Ensembl
Outerchr1:192207121..192220767hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3813647
hg1913647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5618830
SamplesNA18543
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670800
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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