A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672471



Internal ID9938576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209586219..209587914hg38UCSC Ensembl
chr1:209759564..209761259hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5463555
SamplesHG00275
Known GenesCAMK1G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672471
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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