A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585243



Internal ID6625562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12796178..12833339hg38UCSC Ensembl
chr1:12856327..12893193hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3837162
hg1936867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9857373, essv9857360, essv9857350, essv9857348, essv9857355, essv9857324, essv9857376, essv9857389, essv9857347, essv9857358, essv9857384, essv9857327, essv9857356, essv9857381, essv9857340, essv9857353, essv9857377, essv9857386, essv9857366, essv9857335, essv9857346, essv9857378, essv9857372, essv9857362, essv9857369, essv9857367, essv9857342, essv9857329, essv9857354, essv9857374, essv9857337, essv9857333, essv9857351, essv9857359, essv9857365, essv9857387, essv9857380, essv9857363, essv9857385, essv9857343, essv9857391, essv9857330, essv9857357, essv9857388, essv9857371, essv9857375, essv9857328, essv9857349, essv9857379, essv9857382, essv9857336, essv9857332, essv9857339, essv9857341, essv9857390, essv9857326, essv9857345, essv9857361, essv9857352, essv9857364, essv9857325, essv9857370, essv9857368, essv9857334, essv9857344, essv9857383, essv9857331, essv9857338
SamplesHG00613, HG02580, NA18861, HG02108, HG03521, HG01438, HG01852, HG03631, HG01064, HG02727, NA11918, NA12815, NA10847, HG00657, HG03133, HG01492, HG00739, HG02389, HG01861, HG03928, NA19236, HG03049, NA19043, NA12414, HG01917, NA19914, HG00250, NA19390, NA18622, HG01402, HG00610, NA18617, HG01396, NA21119, NA19042, HG03190, NA18525, HG03209, NA19393, NA18923, HG02594, HG02804, HG03472, HG02558, HG00102, NA20818, HG02494, HG03800, NA18997, HG03645, HG03978, HG02180, HG02190, HG03866, HG01303, HG02144, HG01485, HG03369, NA18924, HG02271, HG02642, HG03388, HG03802, HG02391, NA19092, HG01890, HG02095, HG03091
Known GenesPRAMEF1, PRAMEF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585243
Frequency
Sample Size2504
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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