Variant Details

Variant: esv3647164

Internal ID

6687219

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr21:46189814..46191090	hg38	UCSC Ensembl
Inner	chr21:46189819..46191085	hg38	UCSC Ensembl
Outer	chr21:46189809..46191095	hg38	UCSC Ensembl
	chr21:47609728..47611004	hg19	UCSC Ensembl
Inner	chr21:47609733..47610999	hg19	UCSC Ensembl
Outer	chr21:47609723..47611009	hg19	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	1277
hg19	1277

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16345358, essv16345373, essv16345401, essv16345355, essv16345381, essv16345336, essv16345371, essv16345457, essv16345379, essv16345479, essv16345438, essv16345422, essv16345410, essv16345398, essv16345344, essv16345454, essv16345471, essv16345421, essv16345439, essv16345464, essv16345433, essv16345495, essv16345451, essv16345406, essv16345367, essv16345392, essv16345341, essv16345331, essv16345339, essv16345386, essv16345450, essv16345365, essv16345359, essv16345490, essv16345408, essv16345396, essv16345461, essv16345419, essv16345486, essv16345349, essv16345378, essv16345393, essv16345449, essv16345360, essv16345424, essv16345413, essv16345478, essv16345362, essv16345354, essv16345352, essv16345498, essv16345444, essv16345364, essv16345374, essv16345357, essv16345463, essv16345383, essv16345411, essv16345399, essv16345481, essv16345382, essv16345366, essv16345388, essv16345415, essv16345453, essv16345425, essv16345384, essv16345370, essv16345403, essv16345472, essv16345456, essv16345394, essv16345390, essv16345428, essv16345473, essv16345443, essv16345343, essv16345442, essv16345347, essv16345476, essv16345342, essv16345483, essv16345466, essv16345494, essv16345489, essv16345329, essv16345441, essv16345436, essv16345497, essv16345356, essv16345482, essv16345477, essv16345377, essv16345455, essv16345448, essv16345369, essv16345446, essv16345475, essv16345335, essv16345447, essv16345469, essv16345485, essv16345345, essv16345434, essv16345491, essv16345416, essv16345458, essv16345414, essv16345376, essv16345430, essv16345474, essv16345380, essv16345459, essv16345372, essv16345487, essv16345492, essv16345368, essv16345460, essv16345445, essv16345340, essv16345409, essv16345435, essv16345429, essv16345499, essv16345418, essv16345480, essv16345397, essv16345423, essv16345437, essv16345462, essv16345465, essv16345348, essv16345407, essv16345402, essv16345432, essv16345351, essv16345488, essv16345387, essv16345431, essv16345496, essv16345400, essv16345470, essv16345452, essv16345467, essv16345440, essv16345484, essv16345337, essv16345405, essv16345468, essv16345375, essv16345404, essv16345350, essv16345333, essv16345346, essv16345427, essv16345361, essv16345395, essv16345493, essv16345332, essv16345391, essv16345338, essv16345385, essv16345417, essv16345412, essv16345389, essv16345353, essv16345426, essv16345363, essv16345330, essv16345420, essv16345334

Samples

NA18502, HG03096, HG01060, NA19141, HG02944, HG01402, HG02610, HG02496, HG03121, NA18924, NA19204, HG03163, HG02973, NA19332, HG03111, NA19704, NA18507, HG02318, HG03115, NA19092, HG02870, HG03521, HG03298, HG03280, HG02476, NA19355, NA18878, HG03100, NA18870, NA18510, NA19107, HG03095, HG03133, NA19171, HG03436, HG02811, HG03135, HG03499, NA19307, HG02541, NA18923, NA19198, HG02620, HG03370, HG03342, HG02645, HG03105, NA19023, HG01063, NA19138, NA19384, HG02922, HG02111, HG03209, HG02703, HG02315, HG03268, NA18868, NA19137, NA19024, HG02885, NA19235, NA19207, HG01405, NA19722, HG02946, NA19239, HG03267, HG03058, HG03583, NA20127, HG03114, NA18867, NA19921, NA19200, HG03048, HG03169, HG02819, HG02479, HG02009, HG01136, HG03120, HG03160, HG01247, NA19347, HG02678, NA19184, HG02449, NA19391, NA19327, HG02322, HG02144, HG02953, HG02968, HG03294, HG03311, HG03563, HG03085, HG01161, HG02429, NA18879, HG02817, HG03202, NA18499, NA18912, HG03446, NA18853, HG03024, HG03046, NA19452, NA19225, HG01286, NA19318, NA19395, NA19625, HG01990, NA19401, NA19308, HG02613, HG02330, NA19440, NA19834, NA19149, NA18517, HG02501, NA19019, NA19037, HG00638, NA19380, NA18865, HG03127, NA19439, HG02274, NA19310, HG03304, HG02839, NA20281, HG03419, HG03108, HG02558, NA19117, NA20348, HG02974, HG03157, NA19351, HG03313, HG02646, HG03049, HG03279, NA19474, HG02107, NA19093, HG03060, HG02462, NA20289, HG03410, NA18876, HG03401, HG02052, NA19030, HG03445, NA18488, NA19312, NA19463, HG02284, NA18522, HG03198, HG03303, HG00553, NA19153, HG03166

Known Genes

LSS

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647164

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	171
Observed Complex	0
Frequency	n/a