Variant Details

Variant: esv3588066

Internal ID

6975490

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:180303164..180304695	hg38	UCSC Ensembl
Inner	chr1:180303213..180304646	hg38	UCSC Ensembl
Outer	chr1:180303115..180304744	hg38	UCSC Ensembl
	chr1:180272299..180273830	hg19	UCSC Ensembl
Inner	chr1:180272348..180273781	hg19	UCSC Ensembl
Outer	chr1:180272250..180273879	hg19	UCSC Ensembl

Cytoband

1q25.2

Allele length

Assembly	Allele length
hg38	1532
hg19	1532

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10200290, essv10200365, essv10200281, essv10200267, essv10200315, essv10200261, essv10200352, essv10200263, essv10200327, essv10200387, essv10200282, essv10200378, essv10200302, essv10200409, essv10200280, essv10200273, essv10200308, essv10200374, essv10200305, essv10200257, essv10200376, essv10200330, essv10200244, essv10200386, essv10200317, essv10200271, essv10200324, essv10200329, essv10200343, essv10200303, essv10200402, essv10200248, essv10200405, essv10200389, essv10200256, essv10200358, essv10200350, essv10200333, essv10200406, essv10200372, essv10200250, essv10200369, essv10200393, essv10200366, essv10200404, essv10200385, essv10200368, essv10200398, essv10200361, essv10200338, essv10200268, essv10200351, essv10200399, essv10200370, essv10200319, essv10200397, essv10200304, essv10200252, essv10200357, essv10200288, essv10200401, essv10200328, essv10200297, essv10200316, essv10200260, essv10200301, essv10200259, essv10200335, essv10200311, essv10200279, essv10200403, essv10200310, essv10200262, essv10200390, essv10200392, essv10200332, essv10200258, essv10200240, essv10200364, essv10200255, essv10200375, essv10200292, essv10200239, essv10200347, essv10200380, essv10200285, essv10200266, essv10200383, essv10200411, essv10200318, essv10200293, essv10200334, essv10200270, essv10200391, essv10200298, essv10200246, essv10200408, essv10200291, essv10200276, essv10200377, essv10200373, essv10200278, essv10200247, essv10200325, essv10200243, essv10200242, essv10200382, essv10200407, essv10200251, essv10200354, essv10200355, essv10200340, essv10200272, essv10200312, essv10200265, essv10200336, essv10200294, essv10200349, essv10200274, essv10200326, essv10200395, essv10200314, essv10200342, essv10200353, essv10200400, essv10200346, essv10200394, essv10200359, essv10200381, essv10200360, essv10200299, essv10200269, essv10200296, essv10200277, essv10200367, essv10200295, essv10200388, essv10200363, essv10200339, essv10200275, essv10200348, essv10200323, essv10200379, essv10200320, essv10200300, essv10200362, essv10200313, essv10200286, essv10200284, essv10200322, essv10200410, essv10200345, essv10200371, essv10200283, essv10200249, essv10200306, essv10200254, essv10200307, essv10200309, essv10200396, essv10200264, essv10200253, essv10200241, essv10200384, essv10200344, essv10200289, essv10200287, essv10200341, essv10200321, essv10200356, essv10200245, essv10200337, essv10200331

Samples

HG02386, HG04212, HG03773, HG00542, HG01173, NA19700, NA21097, HG01054, NA21089, HG00102, HG00361, HG00242, NA21127, NA18980, HG04194, HG01602, HG01586, NA20878, NA20531, NA11933, HG00367, HG00318, NA19795, HG03668, HG00364, HG00341, HG04001, HG00327, HG02792, HG00641, NA20796, HG03770, NA20890, HG01676, HG01277, NA21130, HG00173, NA20774, HG01766, NA20756, HG04042, HG02687, HG03736, HG01710, NA18960, NA07048, HG03663, NA12283, HG01354, NA12287, HG01083, NA21103, HG00334, NA19782, HG02489, NA20910, NA11930, HG03910, HG00379, HG00335, NA20819, HG02224, HG00262, HG04106, HG02885, HG01369, HG02082, HG01525, HG00309, HG03744, HG00637, HG01709, HG01121, NA21114, HG03884, HG01312, HG03862, NA11831, HG00133, HG00149, HG03780, NA20535, NA12760, HG03908, HG03861, HG03685, HG01501, HG00380, NA20858, HG01669, HG01104, HG03990, HG01790, HG01088, NA20895, HG03711, NA19788, HG03775, HG03805, HG01880, HG00551, HG01094, HG00324, HG00284, HG01619, HG01512, HG00350, NA20581, HG02787, HG00110, HG04155, NA18946, HG03631, HG03974, HG04189, HG00613, NA19740, HG03971, NA12144, HG02286, HG03752, HG04176, HG00246, HG00126, HG04200, NA20821, NA21087, NA19003, HG04219, HG00383, HG00353, HG04239, HG03949, HG00136, HG00278, NA20520, NA20790, HG03702, HG04099, NA18643, NA20516, NA21126, NA20887, HG04141, HG01801, NA19818, HG04023, NA06994, HG04015, HG03789, HG03646, HG00329, NA21102, HG03863, HG02654, HG00288, NA20852, HG00123, NA21133, HG00310, NA18552, HG02348, HG02774, HG00372, HG00595, HG01807, HG03611, HG01097, HG02006, NA20772, HG03989, HG01747, HG01507

Known Genes

ACBD6

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588066

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	173
Observed Complex	0
Frequency	n/a