A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661949



Internal ID9581368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104852858..104858164hg38UCSC Ensembl
Outerchr2:104852487..104858534hg38UCSC Ensembl
Innerchr2:105469316..105474622hg19UCSC Ensembl
Outerchr2:105468945..105474992hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5700165, essv6578130, essv6573321, essv6588598, essv6364653, essv5403370, essv6190782, essv6171305, essv5962055, essv5820002, essv6318670, essv5642314, essv5792016, essv6559071, essv6103213, essv5659224, essv5943302, essv6391942, essv6270693, essv5956986, essv5848070, essv5801461, essv5687059, essv6269899, essv5723284, essv5816011, essv6046905, essv6195050, essv6212437, essv5476759, essv6134407, essv6319592, essv5910893, essv6425469, essv5473588, essv6077538, essv6144989, essv5675659, essv5489755, essv6548358, essv5482424, essv6412667, essv6152374, essv6457691, essv5979584, essv5445615, essv5982702, essv5699816, essv6271758, essv6273309, essv6092735, essv5850713, essv5678185, essv6508920, essv6123669, essv5739828, essv5542507, essv5507324, essv6554425, essv6285894, essv5671251, essv5718753, essv6473545, essv6140551, essv5682288, essv5946773, essv5735495, essv6492371, essv6282988, essv5948894, essv6497644, essv5558176, essv5675097, essv5647024
SamplesHG00189, HG00361, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00179, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00176, HG00282, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00267, HG00174, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345
Known GenesPOU3F3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661949
Frequency
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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