Variant Details

Variant: esv3638685

Internal ID

7025470

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:55746284..55790562	hg38	UCSC Ensembl
Inner	chr16:55746434..55790412	hg38	UCSC Ensembl
Outer	chr16:55746134..55790712	hg38	UCSC Ensembl
	chr16:55780196..55824474	hg19	UCSC Ensembl
Inner	chr16:55780346..55824324	hg19	UCSC Ensembl
Outer	chr16:55780046..55824624	hg19	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	44279
hg19	44279

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15481427, essv15481415, essv15481355, essv15481440, essv15481435, essv15481372, essv15481422, essv15481300, essv15481340, essv15481420, essv15481423, essv15481361, essv15481419, essv15481338, essv15481446, essv15481394, essv15481417, essv15481304, essv15481405, essv15481402, essv15481303, essv15481406, essv15481366, essv15481448, essv15481454, essv15481411, essv15481336, essv15481432, essv15481356, essv15481403, essv15481365, essv15481376, essv15481337, essv15481319, essv15481401, essv15481393, essv15481377, essv15481436, essv15481341, essv15481409, essv15481381, essv15481326, essv15481344, essv15481380, essv15481345, essv15481368, essv15481453, essv15481391, essv15481353, essv15481317, essv15481294, essv15481408, essv15481306, essv15481347, essv15481321, essv15481450, essv15481416, essv15481308, essv15481374, essv15481414, essv15481359, essv15481320, essv15481452, essv15481400, essv15481370, essv15481328, essv15481334, essv15481331, essv15481421, essv15481312, essv15481324, essv15481451, essv15481386, essv15481378, essv15481437, essv15481352, essv15481426, essv15481363, essv15481327, essv15481379, essv15481307, essv15481302, essv15481335, essv15481389, essv15481298, essv15481373, essv15481349, essv15481351, essv15481362, essv15481384, essv15481382, essv15481360, essv15481330, essv15481430, essv15481407, essv15481301, essv15481431, essv15481383, essv15481350, essv15481388, essv15481299, essv15481398, essv15481318, essv15481313, essv15481447, essv15481396, essv15481428, essv15481375, essv15481399, essv15481311, essv15481444, essv15481314, essv15481332, essv15481371, essv15481348, essv15481296, essv15481457, essv15481404, essv15481293, essv15481397, essv15481346, essv15481339, essv15481325, essv15481385, essv15481445, essv15481410, essv15481429, essv15481358, essv15481455, essv15481442, essv15481309, essv15481413, essv15481449, essv15481333, essv15481438, essv15481425, essv15481323, essv15481456, essv15481329, essv15481418, essv15481441, essv15481433, essv15481367, essv15481342, essv15481443, essv15481458, essv15481439, essv15481343, essv15481354, essv15481357, essv15481310, essv15481364, essv15481305, essv15481297, essv15481412, essv15481295, essv15481315, essv15481424, essv15481316, essv15481369, essv15481387, essv15481395, essv15481322, essv15481390, essv15481392, essv15481434

Samples

HG04210, HG01850, HG00442, NA19648, HG02002, NA12286, HG00559, HG00524, HG01031, HG03821, NA21099, NA18980, NA20274, HG01815, HG01602, HG00766, HG00315, NA18999, NA18641, NA20802, HG00729, HG00452, NA19684, NA18625, HG03792, HG00654, HG02023, HG03950, NA18602, HG01924, HG00622, HG01506, HG03706, HG02069, HG01702, NA18995, HG02140, HG01064, NA19678, HG03490, HG02087, HG01997, HG00599, HG02383, NA18567, NA18993, HG01710, NA18942, HG02299, HG00851, HG01848, HG00537, HG01859, HG00158, NA11930, NA12005, HG02493, NA18970, HG02252, HG02389, HG01046, HG00422, NA18986, NA19722, NA20845, HG00159, HG01121, HG03649, NA18539, NA18638, NA18645, NA18614, HG03780, NA18747, NA18613, HG01841, NA19082, NA19006, HG02513, HG00328, HG03644, HG00360, NA18644, HG01095, HG02076, HG00475, NA20314, NA19081, HG04177, HG01029, HG01049, NA19064, NA18537, NA18566, NA18573, HG01512, NA19000, NA20901, HG03660, HG00404, HG03951, HG00479, HG00684, HG02121, HG03631, HG02141, NA18532, HG00525, NA18553, HG02601, HG02292, HG00704, HG02031, HG00463, HG01936, NA18646, HG01992, HG02660, NA21113, HG00611, HG00476, HG03848, NA18533, HG04216, HG03708, NA18628, HG01878, NA18950, HG03949, HG03838, NA20870, HG02391, HG01598, HG03012, NA18643, HG02139, NA18610, HG00620, HG00339, HG02181, HG03729, NA19078, HG00478, NA18631, HG01028, HG03863, HG02079, HG01846, HG02291, HG03925, HG04171, HG02681, HG02348, HG00728, NA18983, HG00595, NA19755, NA19011, NA19004, HG02020, NA18968, HG01566, HG00759, HG02351, NA21104, HG01926

Known Genes

CES1P1, CES1P2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3638685

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	166
Observed Complex	0
Frequency	n/a