A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660117



Internal ID9926222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19959993..19962060hg38UCSC Ensembl
Outerchr1:19959944..19962110hg38UCSC Ensembl
Innerchr1:20286486..20288553hg19UCSC Ensembl
Outerchr1:20286437..20288603hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382167
hg192167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e199
Supporting Variantsessv5920862, essv6009648
SamplesNA19007, NA18984
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660117
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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