Variant Details

Variant: esv3618543

Internal ID

7005425

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr8:116961427..116963100	hg38	UCSC Ensembl
Inner	chr8:116961427..116963100	hg38	UCSC Ensembl
Outer	chr8:116961142..116963334	hg38	UCSC Ensembl
	chr8:117973666..117975339	hg19	UCSC Ensembl
Inner	chr8:117973666..117975339	hg19	UCSC Ensembl
Outer	chr8:117973381..117975573	hg19	UCSC Ensembl

Cytoband

8q24.11

Allele length

Assembly	Allele length
hg38	1674
hg19	1674

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13300668, essv13300703, essv13300686, essv13300696, essv13300665, essv13300691, essv13300683, essv13300692, essv13300675, essv13300685, essv13300658, essv13300678, essv13300679, essv13300680, essv13300702, essv13300659, essv13300657, essv13300699, essv13300688, essv13300693, essv13300664, essv13300662, essv13300677, essv13300673, essv13300687, essv13300672, essv13300697, essv13300656, essv13300661, essv13300663, essv13300674, essv13300682, essv13300660, essv13300695, essv13300671, essv13300670, essv13300689, essv13300669, essv13300684, essv13300676, essv13300690, essv13300698, essv13300694, essv13300667, essv13300700, essv13300701, essv13300681, essv13300666

Samples

HG00189, HG00235, HG03753, HG00367, NA20805, NA12058, HG03836, HG03999, HG03706, HG03976, HG03673, HG00330, HG03234, HG01354, NA20540, HG01528, HG03978, HG02786, HG04214, NA19719, NA21107, HG00309, HG01771, NA20355, HG01353, HG03907, HG02090, HG00101, HG04019, HG04177, HG03871, HG03858, HG03745, HG03755, HG00240, NA20522, HG04188, HG01685, NA19773, HG03727, NA21126, HG03779, HG04140, HG04015, HG01302, HG01377, HG03890, NA21120

Known Genes

SLC30A8

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3618543

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	48
Observed Complex	0
Frequency	n/a