A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676405



Internal ID9942510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196767995..196852687hg38UCSC Ensembl
chr1:196737125..196821817hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884693
hg1984693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e199
Supporting Variantsessv6586905, essv5839851, essv5666696, essv6101495, essv5540769
SamplesHG00351, NA19917, HG01440, HG01197, NA19390
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676405
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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