A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv87e199



Internal ID22757860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196753215..196853562hg38UCSC Ensembl
chr1:196722345..196822692hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38100348
hg19100348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665729, esv2664414, esv2676405, esv2673378, esv2672010, esv2657683
SamplesNA19394, NA18502, NA19701, NA19700, HG01356, NA19703, NA19397, NA18924, HG01462, NA19466, NA11829, NA18861, NA18508, NA10851, NA19399, NA12273, HG00351, NA19914, NA19704, NA18507, NA11920, HG01389, HG01465, NA19355, NA18504, NA12340, NA20332, NA19377, NA20346, NA19443, NA19190, NA19098, NA18870, NA20356, NA19920, NA18510, NA12399, NA12155, HG01140, NA12413, NA12341, NA19107, NA12813, HG01250, NA19381, NA19171, NA18519, HG01366, NA19319, NA19382, NA18489, HG01351, NA19448, NA19119, NA18923, NA19198, NA20317, NA19131, NA18916, NA12283, HG01354, NA19457, NA19313, NA12287, NA19138, NA18498, NA19904, NA19384, NA20291, NA19130, NA12761, NA11930, NA18874, NA12156, NA06984, NA18868, HG01495, NA19917, NA19137, NA12044, NA19235, NA19207, NA19385, NA19172, NA12889, HG01440, NA19159, NA19901, NA19189, NA18520, NA20342, NA19209, NA12828, NA19445, NA18908, NA19985, NA18867, NA19200, NA12748, NA11993, NA11831, HG01136, NA19908, NA19247, HG01384, NA19403, NA12342, NA19462, NA19347, NA18933, NA19391, NA19455, NA19236, NA18516, NA20126, NA18910, NA18871, NA20344, NA18907, NA19461, NA19114, NA11919, NA20299, NA19449, NA12829, HG01197, NA18499, NA18856, NA12249, NA19453, NA20282, NA19099, NA19257, NA19452, NA19225, NA12144, NA18523, NA19469, NA19625, NA18858, NA19436, NA20296, HG01148, NA19401, NA19440, NA19390, NA18909, NA11881, NA19256, NA19147, NA18517, NA20276, NA19434, NA19473, NA12272, HG01253, NA19444, NA19331, NA19380, NA19144, NA19835, NA19334, NA19439, NA19470, NA19311, HG01113, NA20281, NA19360, NA07037, NA12763, HG01342, NA20341, NA19818, NA19376, NA19398, NA19328, NA18501, NA06994, NA19248, NA19438, NA19223, NA12749, NA19468, NA19713, HG01254, NA19093, NA20289, NA19102, NA18873, NA19116, HG01377, NA19430, NA07056, NA19129, NA11892, NA19316, NA20322, NA12890, NA12006, NA18511, NA18522, HG01112, NA19429, NA19346, NA18487, HG01437, NA19431, NA11832
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv87e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss208
Observed Complex0
Frequencyn/a


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