Variant Details

Variant: esv3593247

Internal ID

6633527

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:166299120..166302260	hg38	UCSC Ensembl
Inner	chr2:166299126..166302255	hg38	UCSC Ensembl
Outer	chr2:166299115..166302266	hg38	UCSC Ensembl
	chr2:167155630..167158770	hg19	UCSC Ensembl
Inner	chr2:167155636..167158765	hg19	UCSC Ensembl
Outer	chr2:167155625..167158776	hg19	UCSC Ensembl

Cytoband

2q24.3

Allele length

Assembly	Allele length
hg38	3141
hg19	3141

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10747543, essv10747470, essv10747538, essv10747475, essv10747445, essv10747491, essv10747472, essv10747485, essv10747520, essv10747477, essv10747507, essv10747527, essv10747476, essv10747516, essv10747498, essv10747559, essv10747495, essv10747407, essv10747440, essv10747487, essv10747439, essv10747474, essv10747496, essv10747502, essv10747413, essv10747450, essv10747548, essv10747541, essv10747416, essv10747526, essv10747436, essv10747558, essv10747542, essv10747471, essv10747414, essv10747560, essv10747430, essv10747410, essv10747571, essv10747544, essv10747497, essv10747539, essv10747403, essv10747428, essv10747537, essv10747462, essv10747454, essv10747444, essv10747534, essv10747523, essv10747494, essv10747492, essv10747465, essv10747468, essv10747455, essv10747557, essv10747422, essv10747466, essv10747567, essv10747425, essv10747423, essv10747481, essv10747412, essv10747566, essv10747540, essv10747521, essv10747573, essv10747550, essv10747515, essv10747569, essv10747402, essv10747506, essv10747479, essv10747461, essv10747467, essv10747489, essv10747562, essv10747411, essv10747552, essv10747551, essv10747437, essv10747575, essv10747429, essv10747570, essv10747522, essv10747510, essv10747568, essv10747493, essv10747532, essv10747453, essv10747533, essv10747443, essv10747501, essv10747483, essv10747555, essv10747478, essv10747563, essv10747417, essv10747447, essv10747556, essv10747509, essv10747524, essv10747528, essv10747405, essv10747488, essv10747554, essv10747529, essv10747525, essv10747503, essv10747549, essv10747531, essv10747513, essv10747419, essv10747420, essv10747505, essv10747546, essv10747519, essv10747504, essv10747431, essv10747480, essv10747426, essv10747511, essv10747508, essv10747482, essv10747451, essv10747535, essv10747404, essv10747553, essv10747484, essv10747530, essv10747463, essv10747545, essv10747434, essv10747518, essv10747561, essv10747435, essv10747442, essv10747449, essv10747446, essv10747517, essv10747459, essv10747438, essv10747500, essv10747452, essv10747547, essv10747427, essv10747441, essv10747464, essv10747457, essv10747424, essv10747409, essv10747460, essv10747432, essv10747490, essv10747473, essv10747574, essv10747433, essv10747564, essv10747565, essv10747512, essv10747448, essv10747469, essv10747499, essv10747421, essv10747456, essv10747572, essv10747458, essv10747514, essv10747406, essv10747415, essv10747408, essv10747536, essv10747418, essv10747486

Samples

HG01985, NA19701, NA19222, NA19700, HG02496, HG03121, NA19397, HG01303, HG03548, NA18508, HG03163, NA19399, HG03517, HG02318, HG03300, HG03241, HG02852, HG02891, HG03190, NA18878, NA20332, HG03515, HG02888, NA19098, HG03372, NA20356, NA19920, HG02895, HG02769, NA19107, HG03199, HG03082, HG03168, HG02810, HG02485, HG02325, NA19119, HG03485, NA19131, HG02860, NA18916, HG02645, HG03246, NA19023, HG01083, NA18498, HG03040, NA19904, NA19384, NA19130, HG02505, NA19923, HG02143, HG03556, HG03189, HG03268, HG01170, NA18868, HG02634, NA19917, NA19731, NA19235, NA19172, NA19317, HG01440, NA19026, HG02571, NA18520, HG02545, HG02623, NA19445, HG03055, NA20318, NA19921, NA19027, HG03270, HG02879, HG02479, HG02943, HG02442, HG02820, HG03054, HG03160, HG02582, NA19462, HG03547, NA19913, HG02108, NA19236, HG02554, NA19982, NA18915, HG02450, HG02144, HG02508, HG02968, HG01880, HG02555, NA18907, HG01392, HG03085, HG01311, HG02429, NA20299, NA19118, HG03202, HG03388, HG03078, HG01241, NA19320, NA20282, NA19225, HG03354, HG02332, HG02586, NA19395, HG02594, HG01988, HG03109, HG01107, HG02675, NA19035, HG03567, NA20296, HG03064, NA19206, HG03028, HG02282, NA19108, NA19256, HG03367, NA19712, NA19019, NA19454, HG02983, HG02721, HG01551, HG01253, NA19435, HG01958, HG02611, NA18865, HG03259, NA19324, HG02814, NA19143, NA20348, HG02971, NA19248, NA19472, NA19223, NA19713, HG03258, HG03351, NA19102, NA18873, HG02679, NA19096, NA19711, HG03538, HG03470, NA19900, HG02052, HG02855, NA19316, HG03376, HG02805, NA19463, HG02284, HG03303, NA19214, HG03166, HG03271, HG02760

Known Genes

SCN9A

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3593247

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	174
Observed Complex	0
Frequency	n/a