Variant Details

Variant: esv3630661

Internal ID

7017476

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:105287195..105287817	hg38	UCSC Ensembl
Inner	chr12:105287196..105287816	hg38	UCSC Ensembl
Outer	chr12:105287194..105287818	hg38	UCSC Ensembl
	chr12:105680973..105681595	hg19	UCSC Ensembl
Inner	chr12:105680974..105681594	hg19	UCSC Ensembl
Outer	chr12:105680972..105681596	hg19	UCSC Ensembl

Cytoband

12q23.3

Allele length

Assembly	Allele length
hg38	623
hg19	623

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14599296, essv14599285, essv14599294, essv14599256, essv14599276, essv14599302, essv14599311, essv14599214, essv14599270, essv14599295, essv14599240, essv14599222, essv14599323, essv14599298, essv14599327, essv14599331, essv14599253, essv14599330, essv14599221, essv14599324, essv14599265, essv14599241, essv14599247, essv14599226, essv14599288, essv14599259, essv14599228, essv14599209, essv14599322, essv14599312, essv14599318, essv14599273, essv14599213, essv14599283, essv14599317, essv14599301, essv14599245, essv14599267, essv14599238, essv14599229, essv14599218, essv14599268, essv14599254, essv14599300, essv14599252, essv14599282, essv14599320, essv14599216, essv14599310, essv14599260, essv14599269, essv14599328, essv14599297, essv14599211, essv14599284, essv14599225, essv14599227, essv14599271, essv14599234, essv14599272, essv14599266, essv14599248, essv14599244, essv14599243, essv14599316, essv14599309, essv14599308, essv14599304, essv14599210, essv14599315, essv14599325, essv14599321, essv14599258, essv14599275, essv14599319, essv14599215, essv14599286, essv14599279, essv14599305, essv14599278, essv14599262, essv14599219, essv14599242, essv14599230, essv14599257, essv14599274, essv14599255, essv14599307, essv14599212, essv14599289, essv14599303, essv14599293, essv14599261, essv14599306, essv14599250, essv14599332, essv14599291, essv14599314, essv14599233, essv14599235, essv14599236, essv14599217, essv14599264, essv14599313, essv14599277, essv14599239, essv14599246, essv14599220, essv14599224, essv14599287, essv14599237, essv14599299, essv14599290, essv14599326, essv14599280, essv14599223, essv14599292, essv14599208, essv14599329, essv14599251, essv14599231, essv14599232, essv14599249, essv14599263, essv14599281

Samples

NA18998, HG03096, HG02496, HG02072, HG02385, NA19066, HG00559, NA18565, HG04158, HG02318, HG02852, HG02727, NA18641, HG02078, HG03130, HG00699, HG02050, HG02382, HG01944, NA18606, HG03297, HG03193, NA18633, HG03095, NA18563, HG03436, NA19005, NA18944, HG02621, NA19201, HG03796, NA20890, HG00689, NA18619, NA19916, HG02549, NA19131, HG03905, NA19023, NA19088, NA18498, NA18611, NA19922, NA18970, HG03268, HG02885, HG01892, NA19002, HG02502, NA18990, NA19239, HG02164, NA18638, HG01164, NA20904, NA18951, HG01847, NA19082, HG01864, HG00657, NA19184, HG00475, HG02144, NA20862, HG03756, HG03081, HG02508, NA18534, NA19064, HG03742, HG01392, HG01094, HG00956, HG00404, HG00479, HG02309, HG02881, NA19059, NA19257, NA18531, NA19625, NA18858, NA18593, HG03109, HG04200, HG00407, HG00611, HG02282, NA18533, NA18535, NA18952, NA18559, HG02049, HG02088, NA18992, NA18629, HG02139, HG00620, HG03103, HG03729, NA19078, HG00614, HG00478, NA19248, HG04014, HG00656, HG01846, HG02116, HG02410, NA18552, HG02681, NA18983, HG03162, HG00595, HG00472, NA19430, HG02028, NA18989, HG03882, HG01082, NA20763, HG01869, HG01805, HG01695, HG02760

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3630661

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	125
Observed Complex	0
Frequency	n/a