Variant Details

Variant: esv3647541

Internal ID

6687596

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:29576108..29579446	hg38	UCSC Ensembl
Inner	chr22:29576108..29579446	hg38	UCSC Ensembl
Outer	chr22:29575776..29579729	hg38	UCSC Ensembl
	chr22:29972097..29975435	hg19	UCSC Ensembl
Inner	chr22:29972097..29975435	hg19	UCSC Ensembl
Outer	chr22:29971765..29975718	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	3339
hg19	3339

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16401328, essv16401312, essv16401277, essv16401281, essv16401320, essv16401257, essv16401284, essv16401322, essv16401351, essv16401261, essv16401326, essv16401300, essv16401336, essv16401348, essv16401259, essv16401316, essv16401323, essv16401252, essv16401341, essv16401293, essv16401359, essv16401308, essv16401273, essv16401296, essv16401301, essv16401299, essv16401283, essv16401315, essv16401264, essv16401255, essv16401334, essv16401279, essv16401256, essv16401368, essv16401361, essv16401324, essv16401343, essv16401363, essv16401288, essv16401272, essv16401303, essv16401265, essv16401374, essv16401319, essv16401346, essv16401291, essv16401385, essv16401274, essv16401309, essv16401294, essv16401337, essv16401269, essv16401289, essv16401357, essv16401371, essv16401349, essv16401384, essv16401327, essv16401338, essv16401330, essv16401325, essv16401305, essv16401268, essv16401295, essv16401358, essv16401262, essv16401333, essv16401314, essv16401360, essv16401367, essv16401267, essv16401310, essv16401379, essv16401275, essv16401302, essv16401263, essv16401306, essv16401297, essv16401311, essv16401276, essv16401313, essv16401329, essv16401382, essv16401376, essv16401352, essv16401251, essv16401278, essv16401270, essv16401260, essv16401375, essv16401345, essv16401339, essv16401347, essv16401364, essv16401332, essv16401280, essv16401342, essv16401381, essv16401380, essv16401377, essv16401362, essv16401304, essv16401344, essv16401290, essv16401253, essv16401285, essv16401356, essv16401370, essv16401282, essv16401369, essv16401266, essv16401350, essv16401271, essv16401383, essv16401373, essv16401378, essv16401366, essv16401287, essv16401365, essv16401317, essv16401335, essv16401318, essv16401258, essv16401372, essv16401353, essv16401307, essv16401355, essv16401250, essv16401286, essv16401254, essv16401354, essv16401340, essv16401249, essv16401292, essv16401331, essv16401298, essv16401321

Samples

NA19394, HG01985, HG02890, NA19222, HG02944, HG03052, HG02702, NA19378, HG02433, HG03517, NA19704, HG03057, HG02337, HG02318, HG03241, HG03449, HG02852, HG02836, NA18917, HG03558, HG03190, HG03100, NA18504, NA20332, NA20346, HG02888, NA19190, NA19098, NA20356, HG03478, HG01325, HG02621, HG02810, HG03452, NA19448, NA19307, HG02541, HG02325, NA18923, HG02840, HG02595, HG02549, HG02645, HG02054, NA19138, HG03040, HG02816, HG02922, HG02981, NA19923, HG02703, HG03189, HG03268, HG02634, HG03045, NA19024, HG02885, HG01405, HG02588, NA20412, HG03225, NA18864, HG03267, HG02623, NA18908, HG02882, HG03048, HG02479, HG02009, HG02442, HG02820, HG02570, NA19210, HG01122, HG03547, HG02449, NA19913, NA19043, NA19236, HG02953, HG02887, HG01989, HG02014, HG03027, HG02878, HG02555, HG01390, HG03123, NA20299, NA19118, NA19449, HG02817, HG02445, NA18853, HG03024, NA19099, HG03391, HG02979, HG03046, HG02666, HG01708, NA19225, HG02772, NA19017, HG02330, HG01444, HG03539, HG02501, HG02546, HG02308, HG03458, HG02837, NA19144, HG02982, NA19439, NA19428, NA20281, NA19117, NA20348, HG03112, HG02095, HG02970, NA19351, NA19468, HG02053, HG02107, NA19093, HG03063, HG02679, HG03538, HG03470, HG03401, HG02947, HG02763, NA19146, NA18488, HG02629

Known Genes

NIPSNAP1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647541

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	137
Observed Complex	0
Frequency	n/a