Variant Details

Variant: esv3371820

Internal ID

14872079

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:45969053..45969064	hg38	UCSC Ensembl
Inner	chr2:45969043..45969071	hg38	UCSC Ensembl
Outer	chr2:45969032..45969082	hg38	UCSC Ensembl
	chr2:46196192..46196203	hg19	UCSC Ensembl
Inner	chr2:46196182..46196210	hg19	UCSC Ensembl
Outer	chr2:46196171..46196221	hg19	UCSC Ensembl
	chr2:46049696..46049707	hg18	UCSC Ensembl
Inner	chr2:46049714..46049686	hg18	UCSC Ensembl
Outer	chr2:46049675..46049725	hg18	UCSC Ensembl

Cytoband

2p21

Allele length

Assembly	Allele length
hg38	289
hg19	289
hg18	289

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8905907, essv8905898, essv8905908, essv8905912, essv8905883, essv8905893, essv8905919, essv8905926, essv8905881, essv8905910, essv8905882, essv8905900, essv8905927, essv8905921, essv8905928, essv8905885, essv8905899, essv8905909, essv8905924, essv8905916, essv8905901, essv8905906, essv8905902, essv8905890, essv8905889, essv8905917, essv8905904, essv8905920, essv8905922, essv8905911, essv8905886, essv8905887, essv8905897, essv8905913, essv8905905, essv8905895, essv8905894, essv8905884, essv8905918, essv8905915, essv8905896, essv8905923, essv8905888

Samples

NA12717, NA11995, NA18508, NA10851, NA12414, NA11920, NA12045, NA18870, NA12155, NA07357, NA07346, NA19005, NA18944, NA18916, NA18498, NA18520, NA12489, NA12003, NA18907, NA18537, NA18573, NA18499, NA11894, NA12249, NA19099, NA19257, NA12144, NA18909, NA18961, NA18952, NA19147, NA18517, NA07051, NA07037, NA12763, NA06986, NA18501, NA19102, NA18505, NA12006, NA07000, NA18522, NA12154

Known Genes

PRKCE

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3371820

Frequency

Sample Size	185
Observed Gain	43
Observed Loss	0
Observed Complex	0
Frequency	n/a