Variant Details

Variant: esv3305830

Internal ID

14806092

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:162822106..162822107	hg38	UCSC Ensembl
Inner	chr2:162822089..162822124	hg38	UCSC Ensembl
Outer	chr2:162822088..162822125	hg38	UCSC Ensembl
	chr2:163678616..163678617	hg19	UCSC Ensembl
Inner	chr2:163678599..163678634	hg19	UCSC Ensembl
Outer	chr2:163678598..163678635	hg19	UCSC Ensembl
	chr2:163386862..163386863	hg18	UCSC Ensembl
Inner	chr2:163386880..163386845	hg18	UCSC Ensembl
Outer	chr2:163386844..163386881	hg18	UCSC Ensembl

Cytoband

2q24.2

Allele length

Assembly	Allele length
hg38	300
hg19	300
hg18	300

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7803205, essv7822041, essv7794314, essv7819943, essv7810847, essv7773557, essv7783379, essv7770216, essv7801904, essv7771128, essv7816304, essv7820813, essv7793495, essv7817709, essv7829626, essv7790546, essv7807878, essv7790006, essv7819403, essv7800955, essv7783816, essv7815238, essv7827771, essv7811145, essv7773104, essv7834031, essv7811832, essv7809583, essv7782768, essv7835461, essv7834806, essv7805164, essv7774587, essv7817181, essv7810322, essv7793860, essv7823609, essv7822709, essv7797845, essv7836066, essv7803508, essv7832312, essv7788889, essv7780348, essv7833796, essv7829538, essv7814867, essv7796981, essv7813149, essv7800047, essv7824789, essv7828815, essv7801198, essv7819851, essv7777636, essv7802470, essv7826653, essv7786731, essv7782010, essv7784957, essv7776523, essv7788384, essv7831819, essv7796359, essv7775018, essv7771498, essv7791600, essv7822163, essv7779472, essv7779072, essv7833539, essv7823823, essv7807532, essv7779937, essv7834560, essv7814687, essv7797298, essv7775571, essv7828092, essv7791009, essv7774476, essv7827474, essv7782816, essv7799008, essv7804763

Samples

NA12717, NA11830, NA18947, NA11995, NA11829, NA12814, NA10851, NA12414, NA18603, NA12045, NA12751, NA18545, NA12004, NA18959, NA18870, NA12155, NA07346, NA18940, NA18550, NA12891, NA18547, NA18960, NA11992, NA11918, NA07347, NA18582, NA18571, NA19138, NA18498, NA18949, NA12761, NA18970, NA12156, NA19238, NA12044, NA11994, NA12828, NA18973, NA18638, NA11993, NA11831, NA10847, NA18605, NA12003, NA12878, NA18956, NA18579, NA18871, NA18572, NA18948, NA12234, NA18907, NA18537, NA18566, NA18573, NA12892, NA18555, NA18523, NA18570, NA18593, NA18576, NA12043, NA18608, NA18542, NA12716, NA11881, NA19108, NA18961, NA18952, NA18564, NA12873, NA18943, NA12874, NA07037, NA06986, NA19143, NA18609, NA19102, NA19116, NA18552, NA19129, NA12006, NA07000, NA12154, NA12776

Known Genes

KCNH7

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3305830

Frequency

Sample Size	185
Observed Gain	85
Observed Loss	0
Observed Complex	0
Frequency	n/a