A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664986



Internal ID9931091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153516284..153523093hg38UCSC Ensembl
Outerchr1:153516127..153523246hg38UCSC Ensembl
Innerchr1:153488760..153495569hg19UCSC Ensembl
Outerchr1:153488603..153495722hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387120
hg197120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6064627
SamplesHG00671
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664986
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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