A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663434



Internal ID9582853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206049273..206055159hg38UCSC Ensembl
chr1:206286212..206292095hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385887
hg195884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6007439, essv5774625, essv5605291, essv5844766, essv6018942
SamplesHG00590, HG00534, HG00443, NA19009, NA19072
Known GenesC1orf186
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663434
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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