A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599142



Internal ID6639408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192270703..192279388hg38UCSC Ensembl
chr3:191988492..191997177hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388686
hg198686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11273361, essv11273239, essv11273367, essv11273358, essv11273287, essv11273365, essv11273342, essv11273280, essv11273254, essv11273315, essv11273294, essv11273289, essv11273298, essv11273366, essv11273272, essv11273347, essv11273269, essv11273314, essv11273282, essv11273329, essv11273262, essv11273324, essv11273248, essv11273364, essv11273328, essv11273335, essv11273258, essv11273321, essv11273307, essv11273327, essv11273345, essv11273304, essv11273255, essv11273279, essv11273285, essv11273251, essv11273246, essv11273331, essv11273323, essv11273299, essv11273338, essv11273368, essv11273334, essv11273326, essv11273259, essv11273350, essv11273301, essv11273312, essv11273244, essv11273310, essv11273352, essv11273257, essv11273343, essv11273319, essv11273261, essv11273354, essv11273369, essv11273339, essv11273252, essv11273268, essv11273237, essv11273284, essv11273297, essv11273243, essv11273291, essv11273359, essv11273263, essv11273357, essv11273256, essv11273325, essv11273281, essv11273332, essv11273240, essv11273293, essv11273275, essv11273295, essv11273311, essv11273346, essv11273322, essv11273333, essv11273290, essv11273265, essv11273271, essv11273305, essv11273296, essv11273288, essv11273348, essv11273264, essv11273344, essv11273266, essv11273242, essv11273274, essv11273362, essv11273276, essv11273241, essv11273300, essv11273292, essv11273250, essv11273277, essv11273236, essv11273341, essv11273270, essv11273313, essv11273308, essv11273260, essv11273360, essv11273351, essv11273273, essv11273370, essv11273356, essv11273302, essv11273245, essv11273249, essv11273353, essv11273340, essv11273286, essv11273306, essv11273253, essv11273337, essv11273363, essv11273330, essv11273278, essv11273349, essv11273316, essv11273283, essv11273247, essv11273238, essv11273336, essv11273317, essv11273303, essv11273355, essv11273309, essv11273267, essv11273320, essv11273318
SamplesHG00442, NA19058, NA21111, NA19055, NA20877, NA21127, HG00524, HG03821, NA20899, HG03589, HG02727, HG02061, HG04094, HG01806, HG02691, HG03668, HG03963, NA18625, HG00654, NA18526, NA18969, NA18967, HG00622, HG04038, HG03706, NA19315, HG03757, HG00448, NA21130, HG03976, NA18982, NA20911, NA18619, HG04144, NA20905, HG03736, NA18942, HG03905, HG00851, NA18582, HG03911, NA21103, HG01848, NA18964, HG03830, HG02131, HG03897, HG00867, HG00632, HG02512, HG02067, HG04106, NA19075, NA18748, HG01844, HG02164, HG03844, HG03785, NA18747, NA18613, NA19091, HG02070, HG00596, HG03787, HG04062, NA19175, HG00190, HG04195, HG03636, HG03945, HG03775, NA21098, HG01796, HG01029, HG03823, HG03021, HG03967, HG03742, NA20867, NA18573, HG00651, NA21124, HG00373, HG00531, NA18946, HG03974, HG00525, HG01842, NA19059, HG04152, HG03969, NA18555, HG00704, HG02031, HG01811, HG03934, NA21087, NA21113, HG03778, HG03875, HG02049, NA18950, NA20870, NA18941, HG03689, HG01866, HG01598, HG02179, NA20902, NA21095, NA18643, HG02137, HG03973, HG03703, HG02181, HG01801, HG04080, HG03729, HG00672, HG00614, NA20847, HG03849, NA21102, HG03733, HG02654, HG00656, HG02116, NA18609, HG02410, HG00698, HG02353, HG00759, HG01869, HG03985, HG00593
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599142
Frequency
Sample Size2504
Observed Gain135
Observed Loss0
Observed Complex0
Frequencyn/a


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