A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630654



Internal ID6670788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104798588..104817146hg38UCSC Ensembl
chr12:105192366..105210924hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3818559
hg1918559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv303e214
Supporting Variantsessv14597379, essv14597367, essv14597396, essv14597375, essv14597411, essv14597380, essv14597405, essv14597378, essv14597401, essv14597398, essv14597406, essv14597395, essv14597382, essv14597373, essv14597388, essv14597374, essv14597404, essv14597412, essv14597387, essv14597413, essv14597385, essv14597384, essv14597409, essv14597408, essv14597390, essv14597397, essv14597369, essv14597392, essv14597394, essv14597389, essv14597399, essv14597407, essv14597370, essv14597400, essv14597386, essv14597377, essv14597381, essv14597383, essv14597372, essv14597410, essv14597376, essv14597371, essv14597368, essv14597393, essv14597402, essv14597391, essv14597403
SamplesHG02658, HG03821, HG01066, HG03926, HG03018, NA20507, HG03645, HG02690, HG03490, HG04206, HG04144, HG02655, NA18964, HG02603, HG03762, HG03830, HG04033, HG03868, HG03619, HG02493, NA20896, NA21107, HG01259, HG00160, HG02780, HG03862, HG02793, HG04107, NA20862, HG03631, HG03974, HG03745, NA19009, HG00126, NA21142, HG03934, HG02696, HG04186, HG03869, HG04015, HG02654, HG03022, HG04209, NA18972, HG03815, HG03886, HG03741
Known GenesSLC41A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630654
Frequency
Sample Size2504
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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