A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661307



Internal ID9927412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6551833..6552281hg38UCSC Ensembl
chr11:6573063..6573511hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6202490, essv5484374, essv6304570, essv5849631, essv6407994, essv5793888, essv5983445, essv6342054, essv6119746, essv6046274, essv6353400, essv5708402, essv6483802, essv5603003, essv6416462, essv5649439, essv6117111, essv5817444, essv6118099, essv5430517, essv5819034, essv6469752, essv5747822, essv6314945, essv5835797, essv5581352, essv6524989, essv6117195, essv5933669, essv6017148, essv5655864, essv5545257, essv6179175, essv5656055, essv5943969, essv6443455, essv6009643, essv6491615, essv6183513, essv5866432, essv5764274, essv6572501, essv6003744, essv6271768, essv6282901, essv5981642, essv6439483, essv5780725, essv6333657, essv6112368, essv6112355, essv5672894, essv5957795, essv5481163, essv5954204, essv5748348, essv6537572, essv6593051, essv6559398, essv5449445, essv5950228, essv6023047
SamplesHG00403, HG01060, NA19355, NA19377, HG00177, HG00271, NA19396, NA19379, NA18519, NA19319, NA19382, NA20769, NA19404, NA19383, HG00232, NA19317, NA19189, NA18557, NA19456, NA20757, NA18867, NA20753, HG01187, NA18934, HG00328, NA19347, NA18933, HG00732, NA18910, NA19776, HG00740, NA19654, NA19084, NA18856, NA18912, NA19682, NA19395, HG01075, NA19012, NA18576, NA18909, NA19749, NA19072, HG00357, NA19444, HG01357, NA19835, NA19311, NA18615, HG01489, NA19376, NA19223, NA19779, HG00123, NA20807, NA19080, NA19711, NA18983, NA12154, NA18487, NA19431, NA18965
Known GenesDNHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661307
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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