Variant Details

Variant: esv2421662

Internal ID

7905424

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:12781785..12911989	hg38	UCSC Ensembl
Inner	chr1:12841928..12971833	hg19	UCSC Ensembl
Inner	chr1:12764515..12894420	hg18	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	130205
hg19	129906
hg18	129906

Variant Type

OTHER complex

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5120396, essv5050218, essv5159266, essv5024352, essv5006338, essv5017667, essv5003555, essv5140420, essv5122668, essv5115549, essv5111327, essv5102044, essv5109453, essv5116223, essv5138370, essv5023516, essv5012238, essv5065514, essv5051593, essv5048343, essv5053293, essv5115604, essv5089601, essv5041350, essv5116865, essv5144838, essv5132926, essv5122638, essv5131081, essv5102370, essv5034347, essv5027197, essv5089177, essv5039373, essv5143438, essv5064090, essv5073546, essv5029580, essv5018496, essv5022261, essv5106036, essv5098033, essv5098165, essv5082781, essv5040928, essv5038349, essv5129922, essv5018867, essv5109345, essv5030453, essv5114531, essv5066353, essv5074962, essv5077663, essv5057726, essv5109420, essv5107947, essv5053532, essv5124804, essv5018478, essv5068309, essv5025654, essv5128528, essv5013828, essv5067055, essv5104297, essv5140930, essv5040953, essv5102257, essv5117560, essv5159736, essv5121017, essv5097924, essv5098485, essv5088719, essv5084483, essv5072990, essv5133462, essv5059824, essv5038935, essv5024400, essv5116203, essv5139478, essv5009132, essv5009774, essv5150257, essv5134010, essv5061594, essv5061766, essv5049008

Samples

NA12383, NA21636, NA21317, NA21111, NA21383, NA18924, NA19066, NA19914, NA21519, NA12344, NA21367, NA18925, NA21635, NA11891, NA21784, NA18969, NA17974, NA18923, NA11918, NA19313, NA18161, NA19681, NA21381, NA18611, NA19720, NA21512, NA10853, NA19915, NA12044, NA18617, NA17996, NA18990, NA19721, NA12375, NA19789, NA20818, NA18614, NA10847, NA18951, NA19908, NA21414, NA21318, NA12753, NA21596, NA21119, NA18109, NA20810, NA19748, NA18991, NA19236, NA19683, NA12718, NA19103, NA10838, NA18981, NA20337, NA17965, NA18135, NA18555, NA18963, NA20828, NA20542, NA18593, NA12546, NA21316, NA19436, NA18702, NA19390, NA18559, NA21144, NA18863, NA17962, NA19747, NA19334, NA21740, NA19919, NA19083, NA12874, NA12763, NA20887, NA21364, NA21088, NA21102, NA19468, NA19770, NA18955, NA18624, NA18144, NA18622, NA18965

Known Genes

HNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4

Method

SNP array

Analysis

To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.

Platform

Not specified

Comments

Reference

Altshuler_et_al_2010

Pubmed ID

20811451

Accession Number(s)

esv2421662

Frequency

Sample Size	1184
Observed Gain	20
Observed Loss	70
Observed Complex	0
Frequency	n/a