A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667019



Internal ID9933124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222200823..222207199hg38UCSC Ensembl
chr1:222374165..222380541hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386377
hg196377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e199
Supporting Variantsessv5998081, essv6596264, essv6048216, essv6409082, essv5522413, essv5936923, essv5413391, essv5651868, essv5835439, essv5397488, essv5712561, essv5528864, essv6376671, essv6335074, essv5611419, essv5948690, essv5716208, essv5584351, essv6146637, essv6542025, essv5872482, essv6028088, essv5852322, essv5471912, essv5895423, essv5404729, essv6222923, essv6204707, essv5655155, essv6556743, essv5651025, essv5965427, essv6293935, essv5592580, essv5486741, essv5750910, essv5883978
SamplesHG00189, HG00361, HG00187, HG00306, HG00367, HG00318, HG00179, HG00327, HG00346, HG00270, HG00281, HG00277, HG00335, HG00325, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00282, HG00190, HG00275, HG00273, HG00331, HG00321, HG00375, HG00278, HG00319, HG00339, HG00329, HG00267, HG00310, HG00343, HG00274, HG00171
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667019
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer