Variant Details

Variant: esv3628670

Internal ID

7015494

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:15415479..15416423	hg38	UCSC Ensembl
Inner	chr12:15415550..15416353	hg38	UCSC Ensembl
Outer	chr12:15415409..15416494	hg38	UCSC Ensembl
	chr12:15568413..15569357	hg19	UCSC Ensembl
Inner	chr12:15568484..15569287	hg19	UCSC Ensembl
Outer	chr12:15568343..15569428	hg19	UCSC Ensembl

Cytoband

12p12.3

Allele length

Assembly	Allele length
hg38	945
hg19	945

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14395101, essv14395115, essv14395118, essv14395124, essv14395148, essv14395137, essv14395126, essv14395133, essv14395119, essv14395085, essv14395159, essv14395150, essv14395093, essv14395129, essv14395130, essv14395086, essv14395153, essv14395097, essv14395160, essv14395123, essv14395135, essv14395157, essv14395106, essv14395116, essv14395168, essv14395113, essv14395122, essv14395102, essv14395114, essv14395158, essv14395142, essv14395164, essv14395143, essv14395154, essv14395089, essv14395095, essv14395134, essv14395139, essv14395104, essv14395120, essv14395138, essv14395098, essv14395162, essv14395127, essv14395100, essv14395141, essv14395167, essv14395111, essv14395131, essv14395088, essv14395152, essv14395145, essv14395165, essv14395169, essv14395108, essv14395096, essv14395147, essv14395105, essv14395092, essv14395109, essv14395132, essv14395103, essv14395149, essv14395136, essv14395166, essv14395155, essv14395121, essv14395107, essv14395099, essv14395090, essv14395163, essv14395110, essv14395156, essv14395146, essv14395140, essv14395091, essv14395128, essv14395125, essv14395151, essv14395112, essv14395087, essv14395117, essv14395144, essv14395094, essv14395161

Samples

HG03559, HG03366, HG02496, HG03378, HG01443, HG03052, NA18508, HG03175, HG04211, NA19350, NA18486, HG03280, HG03455, HG03577, NA19201, NA19315, NA18923, NA19198, HG02860, HG02922, NA19922, HG02315, NA19917, HG02461, NA19238, HG01525, HG03352, HG03267, NA19456, NA18908, HG03114, HG02477, HG03369, NA19200, HG03048, HG02716, HG02009, NA18934, HG02582, NA19152, NA19184, HG03457, HG03428, HG01989, HG03382, HG03202, HG03388, HG03078, NA19113, HG02884, HG02309, HG02772, HG04188, NA19390, NA18909, HG03240, NA18517, HG02799, HG03539, HG01894, HG03433, HG03127, HG03473, HG02814, NA19323, HG03432, HG03039, HG02974, HG02095, HG01912, NA19472, HG02107, NA19185, HG02768, HG02679, NA19711, HG03470, NA19129, NA18488, HG03072, HG02851, NA20763, HG02643, HG03166, HG03196

Known Genes

PTPRO

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3628670

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	85
Observed Complex	0
Frequency	n/a