Variant Details

Variant: esv3371266

Internal ID

14871525

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr21:37632249..37632260	hg38	UCSC Ensembl
Inner	chr21:37632239..37632267	hg38	UCSC Ensembl
Outer	chr21:37632228..37632278	hg38	UCSC Ensembl
	chr21:39004551..39004562	hg19	UCSC Ensembl
Inner	chr21:39004541..39004569	hg19	UCSC Ensembl
Outer	chr21:39004530..39004580	hg19	UCSC Ensembl
	chr21:37926421..37926432	hg18	UCSC Ensembl
Inner	chr21:37926439..37926411	hg18	UCSC Ensembl
Outer	chr21:37926400..37926450	hg18	UCSC Ensembl

Cytoband

21q22.13

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

essv8977317, essv8977347, essv8977341, essv8977323, essv8977308, essv8977330, essv8977301, essv8977319, essv8977316, essv8977310, essv8977329, essv8977345, essv8977332, essv8977333, essv8977305, essv8977334, essv8977338, essv8977320, essv8977339, essv8977315, essv8977302, essv8977307, essv8977331, essv8977311, essv8977306, essv8977346, essv8977309, essv8977318, essv8977335, essv8977313, essv8977343, essv8977326, essv8977327, essv8977304, essv8977344, essv8977321, essv8977328, essv8977322, essv8977324, essv8977312, essv8977340, essv8977342

Samples

NA11881, NA18964, NA12249, NA18605, NA12750, NA18952, NA19114, NA11918, NA18550, NA10847, NA18545, NA18948, NA12828, NA18608, NA18542, NA18566, NA18960, NA18563, NA18592, NA12761, NA18638, NA18959, NA18609, NA18973, NA11995, NA18593, NA12144, NA18572, NA19005, NA18558, NA18564, NA18942, NA18940, NA10851, NA18582, NA18907, NA12156, NA12003, NA18944, NA18532, NA18555, NA18980

Known Genes

KCNJ6

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3371266

Frequency

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