A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608992



Internal ID6995916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52301363..52306645hg38UCSC Ensembl
Innerchr6:52301370..52306638hg38UCSC Ensembl
Outerchr6:52301356..52306652hg38UCSC Ensembl
chr6:52166161..52171443hg19UCSC Ensembl
Innerchr6:52166168..52171436hg19UCSC Ensembl
Outerchr6:52166154..52171450hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg385283
hg195283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12350916, essv12350919, essv12350915, essv12350918, essv12350926, essv12350922, essv12350924, essv12350914, essv12350927, essv12350923, essv12350920, essv12350925, essv12350921, essv12350917, essv12350913
SamplesNA19700, HG03558, HG02476, HG03074, HG02946, HG02716, HG03132, HG03061, HG03081, HG03124, HG03472, HG03476, NA19206, HG02983, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608992
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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