A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv293e214



Internal ID22756187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93450497..93454313hg38UCSC Ensembl
chr12:93844273..93848089hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383817
hg193817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630398, esv3630399
SamplesHG01747, HG01516, NA20511, NA20588, NA12383, HG01060, HG03800, HG00304, HG00121, HG01054, HG01624, HG00242, HG02298, HG01348, NA20274, HG01188, NA11931, NA20512, HG00318, NA12004, NA20805, NA20517, NA19669, HG00261, NA20806, HG01513, HG02792, HG00127, HG00272, HG03640, NA20798, HG01167, HG01168, NA20769, NA07347, HG01354, HG01083, HG04070, NA19782, NA19904, HG00311, HG00281, NA20539, NA20518, HG00106, NA20775, NA20812, HG00113, HG01281, HG01525, HG04185, HG00160, HG02104, HG02780, HG00365, HG01524, HG01164, HG00260, HG01784, NA20535, NA20800, HG00176, HG02233, HG01670, HG02236, NA20521, HG02775, HG00263, HG02728, NA20770, HG02221, HG00740, HG01447, HG01512, HG01762, HG01536, NA20581, NA11893, NA19750, HG01182, HG01791, HG02783, HG01403, HG00246, HG01107, HG01530, HG02722, HG03934, HG01992, HG02613, NA21113, NA20773, NA12716, NA19747, HG00375, HG01362, NA20804, NA20778, HG03488, NA20902, NA20504, HG00319, NA20797, NA12874, NA07037, NA20868, HG02238, NA20582, HG00342, NA12830, HG02239, NA19711, HG00343, HG01479, HG00252, HG01125, HG01566, HG01886, NA21104, HG01509, HG01786, HG01437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv293e214
Frequency
Sample Size2504
Observed Gain122
Observed Loss0
Observed Complex0
Frequencyn/a


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