A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662308



Internal ID9928413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166783842..166784661hg38UCSC Ensembl
chr6:167197330..167198149hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5718994, essv5645782, essv6435864, essv6572702, essv6115904, essv5436245, essv5397564, essv5921326, essv5830666, essv6107299, essv6019248, essv5789769, essv5985740, essv5654667, essv5469112, essv5577925, essv5765420, essv5547331, essv5784305, essv5434841, essv6524625, essv6380583, essv6046189, essv5533993, essv5840331, essv5846720
SamplesNA18599, HG00699, NA18504, NA18530, NA19190, NA18870, HG00663, NA19446, HG00689, HG00736, NA18498, NA12761, NA18977, NA18617, NA19451, HG00543, NA18544, HG00732, HG00690, HG01383, NA18543, NA18559, NA18501, HG00377, NA12890, NA19074
Known GenesRPS6KA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662308
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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