A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669572



Internal ID9588991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152305645..152309783hg38UCSC Ensembl
Outerchr1:152305488..152309936hg38UCSC Ensembl
Innerchr1:152278121..152282259hg19UCSC Ensembl
Outerchr1:152277964..152282412hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384449
hg194449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818907, essv5803890, essv6551511, essv6337671, essv5604750, essv5607319, essv6481889, essv6301998, essv6110184, essv5839008, essv6169102, essv6068672, essv5695882, essv6304316, essv6480464, essv5835742, essv5432861, essv5693289, essv6043599, essv5490173, essv6331410, essv5855817, essv6194780, essv6543377, essv6061908, essv5829076, essv5477524
SamplesHG00189, NA19819, NA18606, NA19076, NA19054, HG00590, NA19404, NA18986, HG00530, HG01124, HG01136, NA19077, HG00583, HG01073, HG00651, HG00404, HG01197, NA19059, HG00463, NA19390, NA18628, NA19380, NA19439, NA19376, NA18873, NA19755, NA18549
Known GenesFLG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669572
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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