A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630398



Internal ID7017217
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 Variantsdgv293e214
Supporting Variantsessv14571228, essv14571258, essv14571268, essv14571274, essv14571183, essv14571199, essv14571205, essv14571280, essv14571172, essv14571171, essv14571250, essv14571255, essv14571173, essv14571232, essv14571195, essv14571200, essv14571191, essv14571210, essv14571276, essv14571259, essv14571184, essv14571262, essv14571231, essv14571283, essv14571286, essv14571221, essv14571244, essv14571220, essv14571179, essv14571246, essv14571196, essv14571275, essv14571229, essv14571257, essv14571284, essv14571222, essv14571227, essv14571273, essv14571208, essv14571218, essv14571269, essv14571181, essv14571207, essv14571226, essv14571225, essv14571239, essv14571203, essv14571186, essv14571251, essv14571189, essv14571261, essv14571197, essv14571175, essv14571198, essv14571211, essv14571214, essv14571215, essv14571264, essv14571212, essv14571247, essv14571242, essv14571217, essv14571174, essv14571185, essv14571241, essv14571193, essv14571170, essv14571216, essv14571192, essv14571182, essv14571235, essv14571238, essv14571281, essv14571233, essv14571287, essv14571271, essv14571243, essv14571253, essv14571180, essv14571190, essv14571249, essv14571260, essv14571277, essv14571267, essv14571201, essv14571270, essv14571272, essv14571240, essv14571188, essv14571266, essv14571187, essv14571178, essv14571248, essv14571213, essv14571279, essv14571219, essv14571282, essv14571209, essv14571289, essv14571254, essv14571206, essv14571194, essv14571245, essv14571176, essv14571263, essv14571285, essv14571256, essv14571234, essv14571230, essv14571288, essv14571224, essv14571177, essv14571278, essv14571236, essv14571223, essv14571169, essv14571252, essv14571204, essv14571265, essv14571237, essv14571202
SamplesHG01747, HG01516, NA20511, NA20588, NA12383, HG01060, HG03800, HG00304, HG00121, HG01054, HG01624, HG00242, HG02298, HG01348, 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)esv3630398
Frequency
Sample Size2504
Observed Gain121
Observed Loss0
Observed Complex0
Frequencyn/a


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