A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608910



Internal ID6995834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48129107..48133132hg38UCSC Ensembl
Innerchr6:48129108..48133132hg38UCSC Ensembl
Outerchr6:48129107..48133133hg38UCSC Ensembl
chr6:48096843..48100868hg19UCSC Ensembl
Innerchr6:48096844..48100868hg19UCSC Ensembl
Outerchr6:48096843..48100869hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg384026
hg194026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12343763, essv12343755, essv12343765, essv12343764, essv12343752, essv12343767, essv12343751, essv12343766, essv12343746, essv12343753, essv12343760, essv12343749, essv12343761, essv12343758, essv12343750, essv12343747, essv12343762, essv12343757, essv12343754, essv12343759, essv12343748, essv12343756
SamplesNA19141, NA19466, HG02323, HG03499, HG02620, NA18916, NA19384, NA19917, HG02571, NA19025, NA19437, HG03160, NA19347, HG02256, NA19206, HG02501, HG02308, HG03304, HG02317, HG02814, HG03077, HG02465
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608910
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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