A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660993



Internal ID9580412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206867257..206871886hg38UCSC Ensembl
chr1:207040602..207045231hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384630
hg194630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5794874, essv6067789, essv6178305
SamplesNA19681, NA19707, NA19116
Known GenesIL20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660993
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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