Variant Details

Variant: esv3305617

Internal ID

14805879

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:43928706..43928707	hg38	UCSC Ensembl
Inner	chr22:43928675..43928738	hg38	UCSC Ensembl
Outer	chr22:43928674..43928739	hg38	UCSC Ensembl
	chr22:44324586..44324587	hg19	UCSC Ensembl
Inner	chr22:44324555..44324618	hg19	UCSC Ensembl
Outer	chr22:44324554..44324619	hg19	UCSC Ensembl
	chr22:42655919..42655920	hg18	UCSC Ensembl
Inner	chr22:42655951..42655888	hg18	UCSC Ensembl
Outer	chr22:42655887..42655952	hg18	UCSC Ensembl

Cytoband

22q13.31

Allele length

Assembly	Allele length
hg38	1111
hg19	1111
hg18	1111

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7759456, essv7751253, essv7757148, essv7747827, essv7743075, essv7747542, essv7760704, essv7752591, essv7745488, essv7762513, essv7756665, essv7749235, essv7753037, essv7744575, essv7751780, essv7757825, essv7762452, essv7755741, essv7758112, essv7756828, essv7748106, essv7757463, essv7744962, essv7743484, essv7760472, essv7761109, essv7762599, essv7745873, essv7761871, essv7762083, essv7745651, essv7750021, essv7757176, essv7748502, essv7762782, essv7742902, essv7753138, essv7743392, essv7752153, essv7761737, essv7747998, essv7757710

Samples

NA12717, NA18592, NA18980, NA18561, NA11931, NA12045, NA12751, NA12155, NA07346, NA12891, NA18558, NA18916, NA11918, NA07347, NA12287, NA18498, NA19238, NA12044, NA11993, NA11831, NA10847, NA12489, NA12003, NA12878, NA18856, NA12892, NA18555, NA19225, NA12144, NA18593, NA18576, NA12043, NA11881, NA19147, NA19240, NA07037, NA06986, NA18609, NA18552, NA07000, NA18562, NA18577

Known Genes

PNPLA3

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3305617

Frequency

Sample Size	185
Observed Gain	42
Observed Loss	0
Observed Complex	0
Frequency	n/a