Variant Details

Variant: esv3628599

Internal ID

7015423

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:12099851..12101792	hg38	UCSC Ensembl
Inner	chr12:12099858..12101785	hg38	UCSC Ensembl
Outer	chr12:12099844..12101799	hg38	UCSC Ensembl
	chr12:12252785..12254726	hg19	UCSC Ensembl
Inner	chr12:12252792..12254719	hg19	UCSC Ensembl
Outer	chr12:12252778..12254733	hg19	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	1942
hg19	1942

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14385208, essv14385210, essv14385366, essv14385244, essv14385217, essv14385379, essv14385334, essv14385320, essv14385287, essv14385371, essv14385387, essv14385388, essv14385330, essv14385279, essv14385345, essv14385253, essv14385213, essv14385209, essv14385336, essv14385240, essv14385410, essv14385408, essv14385361, essv14385222, essv14385357, essv14385275, essv14385268, essv14385331, essv14385257, essv14385276, essv14385289, essv14385394, essv14385353, essv14385302, essv14385299, essv14385286, essv14385235, essv14385312, essv14385259, essv14385332, essv14385317, essv14385367, essv14385327, essv14385214, essv14385369, essv14385306, essv14385403, essv14385219, essv14385272, essv14385385, essv14385392, essv14385284, essv14385416, essv14385236, essv14385414, essv14385314, essv14385297, essv14385255, essv14385370, essv14385413, essv14385273, essv14385247, essv14385321, essv14385285, essv14385230, essv14385324, essv14385263, essv14385351, essv14385378, essv14385243, essv14385352, essv14385333, essv14385234, essv14385280, essv14385245, essv14385347, essv14385277, essv14385400, essv14385348, essv14385223, essv14385383, essv14385349, essv14385319, essv14385417, essv14385252, essv14385256, essv14385399, essv14385373, essv14385227, essv14385221, essv14385404, essv14385264, essv14385372, essv14385343, essv14385260, essv14385229, essv14385364, essv14385238, essv14385233, essv14385368, essv14385226, essv14385212, essv14385300, essv14385363, essv14385350, essv14385341, essv14385335, essv14385354, essv14385405, essv14385384, essv14385251, essv14385283, essv14385266, essv14385389, essv14385401, essv14385362, essv14385278, essv14385344, essv14385218, essv14385308, essv14385250, essv14385419, essv14385386, essv14385358, essv14385407, essv14385393, essv14385295, essv14385309, essv14385290, essv14385415, essv14385406, essv14385242, essv14385391, essv14385292, essv14385225, essv14385360, essv14385301, essv14385224, essv14385298, essv14385323, essv14385409, essv14385294, essv14385254, essv14385228, essv14385220, essv14385311, essv14385303, essv14385237, essv14385398, essv14385395, essv14385258, essv14385346, essv14385269, essv14385418, essv14385328, essv14385390, essv14385288, essv14385265, essv14385338, essv14385232, essv14385329, essv14385216, essv14385215, essv14385293, essv14385270, essv14385411, essv14385365, essv14385337, essv14385376, essv14385316, essv14385380, essv14385291, essv14385326, essv14385241, essv14385313, essv14385318, essv14385271, essv14385304, essv14385402, essv14385340, essv14385239, essv14385396, essv14385267, essv14385355, essv14385377, essv14385322, essv14385342, essv14385375, essv14385325, essv14385274, essv14385359, essv14385356, essv14385231, essv14385305, essv14385262, essv14385307, essv14385374, essv14385261, essv14385382, essv14385339, essv14385315, essv14385397, essv14385211, essv14385381, essv14385296, essv14385249, essv14385246, essv14385310, essv14385282, essv14385281, essv14385412, essv14385248

Samples

HG01608, NA19394, NA18998, NA20874, HG00235, HG00542, HG00442, NA11830, HG00536, HG02272, HG01610, NA19066, NA18647, HG00559, HG01031, HG01052, NA19332, NA19378, NA12843, HG01188, NA19020, HG00367, HG01806, HG00181, NA20298, HG00364, NA19057, HG02382, HG01456, HG03518, NA18616, HG00879, HG02154, HG00271, HG00641, NA19171, NA18550, NA18519, HG00251, NA19319, HG02087, HG01676, HG01488, HG01167, HG02541, HG02383, NA18982, HG02595, NA18619, HG00330, HG00129, HG01843, NA18582, NA18571, HG01510, HG00537, NA18949, HG01859, HG00158, NA19404, NA11930, HG00281, HG00139, HG03460, HG00632, HG00379, HG00335, NA20812, HG02634, HG00325, HG00262, HG03696, NA19317, HG01673, HG00705, HG02178, NA19002, HG00406, HG02073, HG00338, HG01133, HG03267, HG02715, HG00323, HG00365, NA20753, HG01256, HG00349, HG02402, HG00290, NA18951, NA18605, HG02570, HG00176, NA19091, HG00282, NA19070, HG02070, NA19006, HG02075, HG04062, HG02152, NA12003, NA19086, NA18956, HG00701, HG02511, NA18991, NA19043, HG01979, HG00533, HG00598, NA18579, NA12718, NA18948, HG02497, HG02537, HG00619, NA18981, NA12234, NA18548, NA18537, NA19654, NA19655, NA18626, HG03476, HG00531, HG00350, HG00331, NA21112, HG01613, HG01241, NA20881, HG01182, NA19059, HG00704, HG00463, HG01936, NA19395, NA18570, NA18634, NA18593, NA12546, HG02127, HG01956, HG00445, HG01896, NA20765, NA19017, NA18978, NA18542, HG00155, NA19309, NA18533, HG01597, HG00336, NA18543, NA20276, NA19749, NA18628, HG01874, NA19090, HG02923, HG01939, NA20785, NA12046, HG01174, NA20527, NA19835, NA18992, HG03259, HG01866, HG01598, HG02580, HG01108, NA20803, HG01862, HG01086, NA19078, HG00707, HG00614, HG00513, HG02367, HG01556, HG02053, HG00267, HG03060, HG01085, HG00174, HG01089, HG02410, NA20786, NA19770, HG02013, NA11843, NA19116, NA19711, NA18972, HG01807, HG03922, NA18989, HG01378, NA19755, NA19011, HG00345, NA18511, NA19063, NA18740, HG00554, NA18562, NA18965, HG00255

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3628599

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	212
Observed Complex	0
Frequency	n/a