Variant Details

Variant: esv3588675

Internal ID

6628966

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:207667715..207672472	hg38	UCSC Ensembl
Inner	chr1:207667716..207672472	hg38	UCSC Ensembl
Outer	chr1:207667715..207672473	hg38	UCSC Ensembl
	chr1:207841060..207845817	hg19	UCSC Ensembl
Inner	chr1:207841061..207845817	hg19	UCSC Ensembl
Outer	chr1:207841060..207845818	hg19	UCSC Ensembl

Cytoband

1q32.2

Allele length

Assembly	Allele length
hg38	4758
hg19	4758

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10280396, essv10280442, essv10280367, essv10280356, essv10280370, essv10280479, essv10280439, essv10280364, essv10280399, essv10280498, essv10280378, essv10280433, essv10280406, essv10280408, essv10280398, essv10280368, essv10280496, essv10280481, essv10280347, essv10280423, essv10280381, essv10280480, essv10280497, essv10280407, essv10280432, essv10280346, essv10280422, essv10280410, essv10280482, essv10280453, essv10280426, essv10280374, essv10280484, essv10280380, essv10280468, essv10280429, essv10280501, essv10280499, essv10280459, essv10280455, essv10280446, essv10280428, essv10280355, essv10280405, essv10280395, essv10280365, essv10280360, essv10280465, essv10280418, essv10280343, essv10280437, essv10280388, essv10280436, essv10280474, essv10280469, essv10280416, essv10280401, essv10280397, essv10280403, essv10280445, essv10280473, essv10280385, essv10280463, essv10280454, essv10280357, essv10280352, essv10280345, essv10280441, essv10280438, essv10280354, essv10280349, essv10280483, essv10280404, essv10280402, essv10280383, essv10280361, essv10280431, essv10280448, essv10280493, essv10280502, essv10280487, essv10280464, essv10280389, essv10280490, essv10280384, essv10280485, essv10280450, essv10280411, essv10280369, essv10280503, essv10280424, essv10280386, essv10280447, essv10280420, essv10280348, essv10280488, essv10280430, essv10280456, essv10280425, essv10280421, essv10280392, essv10280394, essv10280414, essv10280449, essv10280409, essv10280475, essv10280471, essv10280457, essv10280417, essv10280486, essv10280362, essv10280478, essv10280452, essv10280476, essv10280415, essv10280350, essv10280477, essv10280435, essv10280494, essv10280412, essv10280359, essv10280458, essv10280489, essv10280443, essv10280391, essv10280376, essv10280472, essv10280492, essv10280466, essv10280372, essv10280363, essv10280460, essv10280344, essv10280427, essv10280444, essv10280353, essv10280434, essv10280495, essv10280470, essv10280461, essv10280440, essv10280393, essv10280419, essv10280382, essv10280400, essv10280379, essv10280451, essv10280462, essv10280358, essv10280500, essv10280351, essv10280467, essv10280377, essv10280366, essv10280390, essv10280375, essv10280413, essv10280371, essv10280491, essv10280387, essv10280373

Samples

HG03514, NA18502, HG03096, NA19141, HG03366, NA19222, HG02496, HG03548, HG03175, NA20274, HG02433, HG02337, HG02318, HG02852, HG03130, NA20321, HG03521, NA20294, HG03515, HG03139, HG02888, HG03372, NA18510, HG03095, NA19374, HG03082, HG00641, HG03464, NA19379, NA19201, HG02811, HG03135, HG03452, HG03091, HG02325, HG03370, NA20822, HG03246, NA19457, HG03479, HG01365, NA20287, NA20291, NA20910, HG02281, NA19404, HG03209, HG02562, HG03520, HG02703, HG03556, NA18868, HG02634, HG02461, HG03045, HG02885, NA19385, HG02571, HG02545, HG01048, HG03267, NA20342, NA19209, HG03058, HG03394, HG03114, HG02715, NA18867, HG03369, HG01312, HG03343, HG02820, HG02570, HG03054, NA19707, HG03061, NA19043, HG02108, HG03457, HG02887, NA20126, HG02497, HG02470, HG03124, HG02555, HG01092, HG01392, HG03563, HG03382, HG03476, HG02445, HG03078, NA19031, NA18856, NA19113, HG03446, HG02309, HG02881, HG02283, NA18853, HG03024, NA19099, HG02585, HG02256, HG01890, HG02332, NA19095, HG02586, HG01697, NA20296, NA19375, HG03028, HG02807, HG02667, NA19390, HG03240, NA19321, NA19149, NA18517, HG02799, HG03367, HG02983, HG02721, HG01958, HG02837, NA20351, HG03259, HG03469, HG03127, NA19310, HG03419, NA19376, NA19117, HG03039, HG03112, HG02974, HG03049, HG02107, NA19093, HG03063, HG02462, HG02676, NA18873, HG02679, HG02013, HG01468, HG03401, NA19900, HG02052, HG01914, HG03162, HG01617, HG02855, NA19146, HG03072, HG01886, HG03198, HG02629, NA19346, HG03166, HG03265

Known Genes

CR1L

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588675

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	161
Observed Complex	0
Frequency	n/a