A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637603



Internal ID6677706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1088986..1101109hg38UCSC Ensembl
chr16:1138986..1151109hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812124
hg1912124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15359316, essv15359342, essv15359292, essv15359271, essv15359333, essv15359236, essv15359230, essv15359232, essv15359347, essv15359299, essv15359206, essv15359344, essv15359266, essv15359216, essv15359303, essv15359235, essv15359274, essv15359295, essv15359255, essv15359262, essv15359217, essv15359321, essv15359322, essv15359293, essv15359218, essv15359267, essv15359325, essv15359341, essv15359205, essv15359251, essv15359320, essv15359258, essv15359319, essv15359309, essv15359250, essv15359306, essv15359297, essv15359282, essv15359246, essv15359208, essv15359240, essv15359259, essv15359229, essv15359244, essv15359248, essv15359219, essv15359315, essv15359288, essv15359239, essv15359304, essv15359323, essv15359276, essv15359269, essv15359290, essv15359223, essv15359287, essv15359314, essv15359279, essv15359263, essv15359296, essv15359222, essv15359272, essv15359245, essv15359302, essv15359308, essv15359294, essv15359317, essv15359260, essv15359298, essv15359231, essv15359286, essv15359233, essv15359214, essv15359209, essv15359284, essv15359241, essv15359310, essv15359327, essv15359338, essv15359243, essv15359264, essv15359268, essv15359270, essv15359334, essv15359211, essv15359340, essv15359324, essv15359311, essv15359249, essv15359337, essv15359277, essv15359221, essv15359237, essv15359281, essv15359275, essv15359215, essv15359328, essv15359278, essv15359343, essv15359207, essv15359273, essv15359242, essv15359265, essv15359331, essv15359257, essv15359318, essv15359339, essv15359289, essv15359225, essv15359247, essv15359220, essv15359283, essv15359313, essv15359305, essv15359336, essv15359210, essv15359291, essv15359254, essv15359332, essv15359346, essv15359348, essv15359213, essv15359300, essv15359224, essv15359335, essv15359252, essv15359212, essv15359330, essv15359329, essv15359345, essv15359253, essv15359226, essv15359238, essv15359228, essv15359285, essv15359261, essv15359301, essv15359307, essv15359256, essv15359312, essv15359227, essv15359234, essv15359280, essv15359326
SamplesNA18642, HG02140, HG02317, HG00356, HG00536, NA20351, NA19031, NA19712, NA19734, HG02138, NA21113, NA18535, NA20868, HG00129, HG00350, HG00351, HG00437, NA18757, NA19310, HG01105, HG01277, HG02060, NA19149, HG02088, NA19003, NA12815, NA18639, HG01624, HG02139, NA19317, HG01085, NA19923, HG00452, HG02104, NA19795, HG00428, HG00475, HG01915, NA19920, HG02508, NA19184, NA18541, NA21104, HG02497, HG00355, HG00335, NA19701, NA18745, HG00479, NA21106, HG02003, HG02082, HG02081, NA19062, NA19726, NA19914, HG01982, NA19982, NA18998, NA19314, NA21111, NA19735, HG00421, HG01618, NA18957, NA19309, NA19068, HG00130, HG01623, NA18641, HG01620, HG02090, NA19096, NA21116, NA21119, HG00419, HG01879, HG00451, HG01628, HG00407, NA18643, NA19086, NA19700, HG01625, NA18539, HG00097, NA18640, HG02285, HG00382, NA18939, HG00383, NA19027, HG01914, HG02278, NA21107, NA21112, HG00099, NA18749, NA19901, NA18748, HG02087, NA18997, HG01630, HG02084, HG02479, NA19307, HG02484, NA18999, NA19038, NA19794, NA18567, NA19035, HG01626, HG01345, NA18538, NA18740, HG02134, NA12812, NA18565, NA21109, NA20298, HG00378, NA19740, NA18946, NA19041, NA21117, HG01619, NA12399, HG02089, NA19752, HG02286, HG02136, NA12874, NA18574, NA21105, NA19113, HG02013, HG00376, NA19007, HG02130, NA19121, NA20339, NA18553, HG00128
Known GenesC1QTNF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637603
Frequency
Sample Size2504
Observed Gain144
Observed Loss0
Observed Complex0
Frequencyn/a


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