A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669661



Internal ID9589080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:106913616..106914284hg38UCSC Ensembl
chr9:109675897..109676565hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419592, essv5873690, essv6166579, essv6377755, essv5940865, essv5581885, essv5471123, essv6566377, essv5503142, essv6098733, essv6095867, essv6562197, essv5463869, essv6278601, essv6481653, essv5990350, essv5651371, essv6400287, essv5939688, essv6096540, essv5555884, essv5632220, essv6237147, essv5607830, essv6521550, essv6320984, essv6228056, essv5510516, essv6121206, essv5832289, essv5976924, essv5744708, essv5682430, essv6593080, essv6548602, essv5792409, essv5509375, essv6487353, essv6337580, essv6080721, essv5740192, essv6557616, essv5822576, essv5574888, essv6265132, essv5877986, essv6163228, essv5880952, essv6163363, essv6234477, essv5568281, essv5717455, essv6506421, essv5631953, essv6068388, essv6548617, essv6111425, essv5526697, essv6476646, essv5772714, essv6525820, essv6391777, essv6180090, essv6215278, essv5697218, essv5871063, essv6048306, essv5970230, essv5674141, essv6376143, essv6286389, essv5396151, essv5480527, essv6389253
SamplesHG00096, HG00114, NA19701, HG00650, NA11830, HG01098, HG00143, NA19703, NA12286, HG00249, HG00524, NA19914, HG00318, HG00244, NA20805, NA12340, HG00179, HG01518, NA20507, NA20771, HG00641, HG00127, HG00501, NA20774, NA20769, HG01492, NA11992, NA20768, HG00247, HG01365, HG00311, NA12761, HG00512, HG00139, NA19651, HG01080, HG00683, HG00236, HG00182, HG00160, HG00118, NA19789, HG00260, HG00133, HG01360, HG01171, NA20787, NA12342, HG01095, NA19663, HG00263, NA12718, NA20519, HG00551, HG01094, NA12249, HG00157, HG00140, NA12778, HG01107, HG00155, HG01190, NA12272, HG00136, NA20797, HG00125, NA19779, HG00267, NA20758, HG00252, NA20503, HG01111, HG01082, HG00171
Known GenesMIR548Q, ZNF462
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669661
Frequency
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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