A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676495



Internal ID9942600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32624839..32665445hg38UCSC Ensembl
Outerchr6:32624468..32665815hg38UCSC Ensembl
Innerchr6:32592616..32633222hg19UCSC Ensembl
Outerchr6:32592245..32633592hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3841348
hg1941348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6084777, essv5742416, essv5633437, essv5746500, essv6207039, essv6375213, essv6259954, essv6027884, essv6490309, essv6430429, essv6544382, essv5663819, essv6496389, essv6397846, essv6098392, essv6147934, essv5399433, essv6090840, essv6149152, essv5995764, essv5477537, essv5941331, essv5930836, essv6492161, essv5937343, essv5719252, essv6195980, essv5930486, essv5439424, essv6500460, essv5764460, essv6155421, essv5877114, essv6379717, essv5856060, essv6385929, essv6569137, essv6465054, essv6104434, essv5987044
SamplesHG01173, HG01098, HG01052, HG01079, HG01188, HG01066, HG00640, HG01051, HG01070, HG01168, HG01083, HG01069, HG01067, HG01176, HG01198, HG00637, HG01048, HG01183, HG00731, HG01187, HG01171, HG00732, HG01095, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG00638, HG01174, HG01108, HG01055, HG01082, HG01097, HG01191, HG01061
Known GenesHLA-DQA1, HLA-DQB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676495
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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