Variant Details

Variant: esv3589505

Internal ID

6629794

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:247067705..247069467	hg38	UCSC Ensembl
Inner	chr1:247067756..247069417	hg38	UCSC Ensembl
Outer	chr1:247067655..247069518	hg38	UCSC Ensembl
	chr1:247231007..247232769	hg19	UCSC Ensembl
Inner	chr1:247231058..247232719	hg19	UCSC Ensembl
Outer	chr1:247230957..247232820	hg19	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	1763
hg19	1763

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10373549, essv10373503, essv10373558, essv10373463, essv10373501, essv10373539, essv10373577, essv10373536, essv10373516, essv10373585, essv10373508, essv10373513, essv10373587, essv10373556, essv10373578, essv10373550, essv10373452, essv10373515, essv10373505, essv10373479, essv10373575, essv10373576, essv10373457, essv10373567, essv10373481, essv10373566, essv10373504, essv10373541, essv10373529, essv10373492, essv10373487, essv10373514, essv10373497, essv10373574, essv10373559, essv10373498, essv10373499, essv10373543, essv10373586, essv10373466, essv10373451, essv10373588, essv10373476, essv10373461, essv10373495, essv10373580, essv10373521, essv10373533, essv10373569, essv10373582, essv10373484, essv10373554, essv10373486, essv10373525, essv10373519, essv10373545, essv10373482, essv10373490, essv10373553, essv10373480, essv10373570, essv10373538, essv10373584, essv10373590, essv10373579, essv10373458, essv10373494, essv10373561, essv10373496, essv10373493, essv10373511, essv10373456, essv10373565, essv10373531, essv10373502, essv10373532, essv10373548, essv10373485, essv10373572, essv10373564, essv10373459, essv10373468, essv10373517, essv10373546, essv10373462, essv10373465, essv10373467, essv10373472, essv10373483, essv10373488, essv10373571, essv10373589, essv10373477, essv10373537, essv10373471, essv10373470, essv10373527, essv10373544, essv10373563, essv10373583, essv10373473, essv10373535, essv10373551, essv10373469, essv10373510, essv10373475, essv10373568, essv10373552, essv10373573, essv10373506, essv10373507, essv10373449, essv10373528, essv10373512, essv10373500, essv10373491, essv10373526, essv10373489, essv10373547, essv10373524, essv10373555, essv10373562, essv10373534, essv10373460, essv10373455, essv10373474, essv10373542, essv10373509, essv10373448, essv10373464, essv10373530, essv10373520, essv10373454, essv10373581, essv10373518, essv10373540, essv10373523, essv10373453, essv10373478, essv10373522, essv10373450, essv10373557, essv10373560

Samples

HG03163, NA19146, HG02496, HG03135, HG02317, NA19152, NA19445, HG01241, HG02675, HG02970, HG03382, HG03479, HG02816, HG03112, HG02284, HG02799, NA19401, HG02334, HG03196, NA19023, HG02419, HG02979, HG03133, NA18877, NA19334, NA19331, HG03265, HG03469, NA19338, HG01883, NA20362, HG03048, NA19019, HG03458, HG02497, HG03294, NA19257, HG02613, NA19108, HG03485, HG02323, NA18488, NA19236, HG03109, HG02433, HG03394, NA19037, HG03159, HG02973, HG03049, NA19654, NA20340, NA19043, HG03376, HG02982, NA19463, NA19428, NA18912, NA18508, HG01248, NA19020, NA19107, HG03559, HG03436, HG03439, HG02861, NA20127, HG02667, NA18876, HG03445, HG03027, NA19457, HG03063, HG03225, NA19247, HG02814, HG02840, NA19377, NA19380, NA19153, HG02442, NA19189, NA20291, NA19374, HG03209, HG03397, NA19375, NA19384, HG03455, NA19102, HG03511, HG02594, HG02804, NA18510, HG02623, HG02807, NA19098, HG02429, NA19175, HG02111, HG03096, NA19332, NA19909, HG03428, HG02852, HG03433, HG02307, NA18910, HG02479, HG03297, NA20355, HG02624, HG02309, HG03108, NA19921, NA19376, NA18907, HG02923, NA19035, HG01971, NA18915, NA20276, NA19403, HG03267, NA20289, NA19818, HG03123, HG02589, HG02837, HG02891, HG03258, NA20359, HG02476, HG02445, HG03449, NA19130, HG03557, HG02620, HG02574, HG02013, NA19385, HG02820, HG03460

Known Genes

ZNF670, ZNF670-ZNF695

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3589505

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	143
Observed Complex	0
Frequency	n/a