A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673228



Internal ID9939333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154755877..154756128hg38UCSC Ensembl
chr1:154728353..154728604hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5425487, essv5678069, essv6284915, essv5969037, essv5700965, essv6092678, essv5848128, essv5976911, essv6117518, essv6378238, essv6452053, essv6580954, essv6512001, essv5786546, essv6493444, essv5665118, essv5725576, essv6209417, essv6092332, essv5550214, essv5644614, essv5720169, essv5690847, essv5985995, essv5419158, essv6409548, essv5737293, essv6553697, essv5477073, essv6301941
SamplesHG00650, NA11830, NA19703, NA18924, HG01052, HG00315, NA18545, NA18504, HG01456, NA20332, NA20356, NA19920, NA19382, HG01080, HG00313, NA18933, HG00475, HG00500, NA20126, NA19750, HG00321, HG00258, NA19712, NA19818, NA19093, NA19116, HG01377, NA19463, HG01097, NA18549
Known GenesKCNN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673228
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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