A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666227



Internal ID9585646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75879289..75883349hg38UCSC Ensembl
chr17:73875370..73879430hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6387145, essv6189203, essv5949278, essv6312419, essv6564794, essv5830596, essv6455197, essv5637330, essv6560462, essv5670739, essv6061724, essv5542007, essv6196498, essv6308038, essv5561167, essv5502441, essv5451647, essv6037575, essv6450733, essv6445122, essv5559748, essv5741328, essv6404764, essv5419559, essv5459118, essv6176429, essv6144899, essv6145051, essv6189073, essv6208008, essv5721523, essv5655687, essv5611186
SamplesNA19700, NA19909, NA19684, NA19443, NA19920, NA19660, NA18489, NA18498, NA20340, NA19235, NA19189, NA19445, NA19247, NA19437, NA19327, NA19982, NA18856, NA18912, NA18853, NA19452, NA19685, NA19401, NA19375, NA19440, NA19390, NA19108, NA18517, NA20790, NA19470, NA19360, NA19248, NA18511, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666227
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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