A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671442



Internal ID9937547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21358479..21360821hg38UCSC Ensembl
chr1:21684972..21687314hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382343
hg192343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5520850, essv6068623, essv6591962
SamplesHG00524, HG00501, HG00512
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671442
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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