Variant Details

Variant: esv3629525

Internal ID

6669664

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:52692536..52693909	hg38	UCSC Ensembl
Inner	chr12:52692538..52693908	hg38	UCSC Ensembl
Outer	chr12:52692535..52693911	hg38	UCSC Ensembl
	chr12:53086320..53087693	hg19	UCSC Ensembl
Inner	chr12:53086322..53087692	hg19	UCSC Ensembl
Outer	chr12:53086319..53087695	hg19	UCSC Ensembl

Cytoband

12q13.13

Allele length

Assembly	Allele length
hg38	1374
hg19	1374

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14483189, essv14483178, essv14483242, essv14483223, essv14483185, essv14483240, essv14483261, essv14483232, essv14483221, essv14483160, essv14483130, essv14483268, essv14483169, essv14483170, essv14483144, essv14483287, essv14483174, essv14483285, essv14483151, essv14483216, essv14483266, essv14483175, essv14483159, essv14483167, essv14483239, essv14483207, essv14483249, essv14483156, essv14483215, essv14483193, essv14483209, essv14483230, essv14483276, essv14483255, essv14483283, essv14483139, essv14483244, essv14483202, essv14483164, essv14483206, essv14483217, essv14483257, essv14483165, essv14483147, essv14483275, essv14483163, essv14483258, essv14483279, essv14483141, essv14483241, essv14483270, essv14483187, essv14483196, essv14483278, essv14483263, essv14483208, essv14483226, essv14483265, essv14483256, essv14483153, essv14483280, essv14483224, essv14483236, essv14483143, essv14483272, essv14483190, essv14483282, essv14483247, essv14483176, essv14483281, essv14483250, essv14483218, essv14483155, essv14483154, essv14483162, essv14483277, essv14483253, essv14483168, essv14483269, essv14483157, essv14483212, essv14483271, essv14483252, essv14483177, essv14483161, essv14483197, essv14483188, essv14483274, essv14483243, essv14483213, essv14483235, essv14483237, essv14483148, essv14483135, essv14483259, essv14483210, essv14483191, essv14483228, essv14483134, essv14483267, essv14483262, essv14483245, essv14483211, essv14483146, essv14483219, essv14483186, essv14483166, essv14483273, essv14483200, essv14483286, essv14483204, essv14483179, essv14483225, essv14483203, essv14483246, essv14483142, essv14483173, essv14483181, essv14483264, essv14483222, essv14483201, essv14483180, essv14483238, essv14483172, essv14483150, essv14483132, essv14483251, essv14483184, essv14483145, essv14483149, essv14483260, essv14483220, essv14483214, essv14483195, essv14483227, essv14483254, essv14483183, essv14483233, essv14483192, essv14483205, essv14483131, essv14483234, essv14483289, essv14483284, essv14483138, essv14483182, essv14483152, essv14483194, essv14483137, essv14483199, essv14483171, essv14483140, essv14483248, essv14483136, essv14483198, essv14483288, essv14483229, essv14483133, essv14483231, essv14483158

Samples

HG01485, NA20529, HG01098, HG01356, HG01054, HG01462, HG01052, HG01079, NA20514, NA21100, NA12843, HG04211, HG00257, NA20752, NA20532, HG04076, HG00103, HG01686, HG03018, NA20517, NA20507, NA12399, NA12413, NA12341, HG01513, HG00337, HG01250, NA19792, HG00138, NA19379, HG03976, NA20774, HG01766, HG03873, NA12348, HG01761, NA20822, HG00158, HG03793, HG00139, NA19923, HG04214, HG01069, NA20278, HG02315, HG00335, HG03968, NA20819, HG00236, HG03746, HG03696, HG03814, NA20889, HG00637, NA12828, HG01626, HG01967, NA21105, HG01256, HG01353, NA12777, HG02737, HG01183, HG00149, HG03844, NA20535, NA12489, HG00268, HG00380, HG01200, HG00332, HG03907, HG00360, HG01790, HG00190, HG03786, HG01684, HG04195, HG00101, HG02253, HG00368, HG01979, HG03711, HG00263, HG01077, HG04177, HG00551, HG03021, HG02789, HG03742, HG01102, HG01311, HG03871, HG01197, NA11894, NA11840, HG01707, NA19031, HG04173, NA20881, NA06989, HG04017, HG03971, HG04152, HG01679, HG02219, HG01988, HG00126, HG01204, NA20821, HG03238, HG00258, NA20522, NA21117, NA20801, NA12716, HG00254, HG01190, HG01131, HG00742, HG01685, NA12873, NA20351, NA07051, NA20527, NA12763, HG01342, HG03681, HG00269, HG00125, NA20888, HG00107, HG04080, HG03729, HG00371, HG02147, NA19779, NA19474, NA12830, HG03998, HG00186, HG00112, NA20807, HG00280, HG03925, NA20826, NA20528, HG02774, HG01479, HG00252, HG01431, NA07056, HG01082, HG02425, NA12006, HG01509, HG02006, NA20754, HG01061, NA20772

Known Genes

KRT77

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3629525

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	160
Observed Complex	0
Frequency	n/a