A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv118e199



Internal ID20123420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:8047382..8056729hg38UCSC Ensembl
chr10:8089345..8098692hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg389348
hg199348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661039, esv2668587
SamplesNA19312, NA19445, NA19436, NA20514, NA20771, NA20522, NA20809, NA20503, NA20785, NA19081, NA19437, NA20510, NA19311, NA19060, NA19469, NA19003, NA19072, NA19435, NA20775, NA19430, NA19359, NA19334, NA19451, NA20816, NA19010, NA19338, NA19449, NA19461, NA19379, NA20588, NA19474, NA19472, NA19467, NA19438, NA19077, NA19463, NA19085, NA19076, NA20819, NA19068, NA20811, NA19443, NA19471, NA20757, NA19444, NA18990, NA19088, NA19429, NA19440, NA19066, NA19075, NA18982, NA19056, NA19457, NA19082, NA19316, NA19000, NA19055, NA19313, NA19377, NA19080, NA20536, NA19375, NA19393, NA20790, NA20826, NA20753, NA18941, NA20818, NA19347, NA20774, NA19332, NA20815, NA20542, NA20582, NA18988, NA19074, NA18985, NA19462, NA18940, NA18987, NA20537, NA20534, NA18983, NA20518, NA19431, NA19434, NA19446, NA19452, NA20507, NA20810, NA19063, NA20543, NA19070, NA19470, NA19346, NA19350, NA19079, NA19381, NA19473, NA19448, NA20502, NA19468, NA19007, NA19456, NA19466, NA19439
Known GenesGATA3, GATA3-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv118e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss107
Observed Complex0
Frequencyn/a


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