A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629323



Internal ID6669463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42112748..42113932hg38UCSC Ensembl
Innerchr12:42112748..42113932hg38UCSC Ensembl
Outerchr12:42112503..42114196hg38UCSC Ensembl
chr12:42506550..42507734hg19UCSC Ensembl
Innerchr12:42506550..42507734hg19UCSC Ensembl
Outerchr12:42506305..42507998hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14458940, essv14458962, essv14458926, essv14459011, essv14459035, essv14458972, essv14458906, essv14458951, essv14458950, essv14458966, essv14458907, essv14458958, essv14458945, essv14458991, essv14458937, essv14458949, essv14458935, essv14458960, essv14458992, essv14459027, essv14459013, essv14458927, essv14458928, essv14458954, essv14459006, essv14459031, essv14459024, essv14458981, essv14458988, essv14458921, essv14458996, essv14458999, essv14458984, essv14458934, essv14459019, essv14458961, essv14458965, essv14458964, essv14459028, essv14458931, essv14459004, essv14459016, essv14458953, essv14458993, essv14458909, essv14458941, essv14458946, essv14458952, essv14458924, essv14458908, essv14458997, essv14458930, essv14459010, essv14459033, essv14458920, essv14458963, essv14458974, essv14458985, essv14458998, essv14458919, essv14458933, essv14458967, essv14458989, essv14459021, essv14458994, essv14459025, essv14459001, essv14459034, essv14458932, essv14458955, essv14459022, essv14459023, essv14458971, essv14459012, essv14458911, essv14458916, essv14458910, essv14458970, essv14459003, essv14459030, essv14458942, essv14458983, essv14458982, essv14459029, essv14458978, essv14458987, essv14459026, essv14459020, essv14458968, essv14459002, essv14459017, essv14458959, essv14458917, essv14458929, essv14458918, essv14458936, essv14458947, essv14459032, essv14459009, essv14459005, essv14459036, essv14458925, essv14458986, essv14458923, essv14458939, essv14458980, essv14458915, essv14458975, essv14458912, essv14459014, essv14458995, essv14459008, essv14458938, essv14458977, essv14458948, essv14458922, essv14458914, essv14458990, essv14459000, essv14458956, essv14458944, essv14458979, essv14459007, essv14458913, essv14458976, essv14459018, essv14459015, essv14458957, essv14458973, essv14458943, essv14458969
SamplesHG02470, HG02715, HG02580, HG02317, HG03120, HG03354, NA19031, HG02330, NA19321, HG03351, NA18933, NA19404, HG03478, HG03129, HG03304, HG01885, NA19149, HG02255, NA19223, HG03301, NA20296, HG03046, NA19451, HG02944, NA19019, NA18489, HG02471, HG01958, HG03401, NA19320, HG02817, HG03538, HG02613, HG03199, HG03268, HG03572, NA18873, HG03159, HG02973, NA18868, NA19143, NA20340, HG03376, HG02895, NA20412, NA19028, HG02588, NA19914, HG03088, HG02981, HG01086, NA19239, HG03575, NA19323, NA20356, HG03484, NA19917, HG03202, NA19107, HG02968, HG02861, HG02557, HG02643, HG02667, NA18876, NA19351, NA19429, HG03464, HG03130, HG03024, HG03079, NA19457, NA19042, NA19316, NA19190, HG02941, HG03063, HG01111, HG03126, NA19172, HG02054, HG03040, HG03209, HG03473, NA18522, HG03511, HG02573, HG02429, HG02971, HG02771, NA19909, HG03072, HG03157, NA12283, HG02614, HG03118, NA19462, NA19141, HG02582, NA19235, HG02281, NA19138, NA19201, NA19394, NA19431, HG03172, NA20289, NA18879, NA19452, HG01464, NA19225, HG02891, NA18917, NA19399, HG01058, HG02256, HG03270, NA19315, NA19095, HG02485, HG03372, NA18853, HG02620, HG02051, HG02013, HG02332, NA19092, NA19456, HG02769, HG03095, HG02839
Known GenesGXYLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629323
Frequency
Sample Size2504
Observed Gain0
Observed Loss131
Observed Complex0
Frequencyn/a


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