Variant Details

Variant: esv3627922

Internal ID

7014747

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr11:121480621..121481971	hg38	UCSC Ensembl
Inner	chr11:121480638..121481954	hg38	UCSC Ensembl
Outer	chr11:121480604..121481988	hg38	UCSC Ensembl
	chr11:121351330..121352680	hg19	UCSC Ensembl
Inner	chr11:121351347..121352663	hg19	UCSC Ensembl
Outer	chr11:121351313..121352697	hg19	UCSC Ensembl

Cytoband

11q24.1

Allele length

Assembly	Allele length
hg38	1351
hg19	1351

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14295521, essv14295522, essv14295502, essv14295482, essv14295532, essv14295520, essv14295479, essv14295507, essv14295525, essv14295516, essv14295506, essv14295435, essv14295523, essv14295456, essv14295500, essv14295428, essv14295448, essv14295537, essv14295519, essv14295489, essv14295457, essv14295501, essv14295511, essv14295411, essv14295528, essv14295439, essv14295417, essv14295480, essv14295443, essv14295498, essv14295463, essv14295426, essv14295440, essv14295430, essv14295496, essv14295445, essv14295512, essv14295488, essv14295459, essv14295505, essv14295474, essv14295509, essv14295485, essv14295433, essv14295418, essv14295527, essv14295487, essv14295473, essv14295420, essv14295425, essv14295442, essv14295518, essv14295530, essv14295508, essv14295477, essv14295429, essv14295450, essv14295466, essv14295419, essv14295475, essv14295469, essv14295504, essv14295460, essv14295470, essv14295483, essv14295486, essv14295467, essv14295424, essv14295468, essv14295533, essv14295438, essv14295454, essv14295497, essv14295536, essv14295444, essv14295478, essv14295499, essv14295462, essv14295427, essv14295535, essv14295436, essv14295495, essv14295481, essv14295471, essv14295464, essv14295449, essv14295414, essv14295416, essv14295531, essv14295458, essv14295494, essv14295441, essv14295453, essv14295503, essv14295432, essv14295423, essv14295513, essv14295455, essv14295461, essv14295415, essv14295491, essv14295465, essv14295452, essv14295434, essv14295413, essv14295539, essv14295484, essv14295431, essv14295534, essv14295510, essv14295446, essv14295540, essv14295451, essv14295514, essv14295422, essv14295421, essv14295412, essv14295529, essv14295493, essv14295472, essv14295517, essv14295410, essv14295447, essv14295538, essv14295526, essv14295524, essv14295492, essv14295515, essv14295437, essv14295476, essv14295490

Samples

HG03514, NA19394, NA19701, NA21110, HG02628, NA19466, HG03052, NA21127, NA19332, NA21099, NA19704, HG01305, HG02323, HG03518, HG03372, NA20356, NA19314, HG03478, HG03133, HG03082, NA19319, NA19448, NA21130, HG03091, HG02325, NA18923, HG03224, NA19384, HG03079, HG02562, NA20278, NA19383, HG02315, HG02573, NA19917, HG02885, HG03195, HG02571, HG02502, HG02427, NA20355, HG03058, NA18867, NA19921, HG03169, HG02819, NA21106, HG02009, HG02977, NA20892, HG02570, NA19908, HG01248, HG03088, NA19184, HG03291, HG01879, HG02108, HG02450, HG01989, HG01498, HG03575, HG02508, HG02497, HG02555, HG03311, HG03123, NA20299, HG03136, HG01504, NA19113, HG01182, HG04017, NA19320, HG03571, HG03451, HG02979, HG02666, HG02256, NA19395, NA19625, NA18858, HG03109, HG01990, HG01896, NA19375, HG03240, NA19256, HG02799, HG02010, HG02721, NA19037, HG03117, HG01623, HG02982, HG03469, NA19439, NA19428, NA19324, HG03304, HG02580, NA21126, HG03419, HG03108, NA19376, NA19323, NA19117, NA18501, HG03039, NA20348, NA19248, HG02974, HG02970, NA19474, HG02107, HG03258, NA19213, NA19900, HG01883, HG03162, HG02855, NA19129, HG01111, HG01082, NA19463, NA18511, HG03198, HG02808, HG03303, HG02343, HG03271

Known Genes

SORL1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3627922

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	131
Observed Complex	0
Frequency	n/a