Variant Details

Variant: esv3628671

Internal ID

7015495

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:15415543..15420683	hg38	UCSC Ensembl
Inner	chr12:15415544..15420682	hg38	UCSC Ensembl
Outer	chr12:15415542..15420684	hg38	UCSC Ensembl
	chr12:15568477..15573617	hg19	UCSC Ensembl
Inner	chr12:15568478..15573616	hg19	UCSC Ensembl
Outer	chr12:15568476..15573618	hg19	UCSC Ensembl

Cytoband

12p12.3

Allele length

Assembly	Allele length
hg38	5141
hg19	5141

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14395179, essv14395239, essv14395213, essv14395183, essv14395250, essv14395224, essv14395228, essv14395205, essv14395206, essv14395216, essv14395195, essv14395193, essv14395208, essv14395220, essv14395230, essv14395219, essv14395189, essv14395231, essv14395174, essv14395188, essv14395227, essv14395215, essv14395214, essv14395175, essv14395196, essv14395186, essv14395238, essv14395229, essv14395217, essv14395226, essv14395202, essv14395245, essv14395209, essv14395212, essv14395204, essv14395187, essv14395237, essv14395176, essv14395244, essv14395232, essv14395190, essv14395225, essv14395240, essv14395203, essv14395242, essv14395247, essv14395236, essv14395201, essv14395207, essv14395248, essv14395218, essv14395210, essv14395243, essv14395221, essv14395185, essv14395177, essv14395222, essv14395180, essv14395233, essv14395178, essv14395251, essv14395199, essv14395246, essv14395211, essv14395198, essv14395191, essv14395249, essv14395184, essv14395173, essv14395181, essv14395235, essv14395241, essv14395194, essv14395192, essv14395182, essv14395223, essv14395172, essv14395234, essv14395197, essv14395170, essv14395200, essv14395171

Samples

HG03559, HG03366, HG02496, HG03378, HG01443, HG03052, NA18508, HG03175, 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, 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, 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)

esv3628671

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	82
Observed Complex	0
Frequency	n/a