Variant Details

Variant: esv3629438

Internal ID

7016260

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:48516804..48517444	hg38	UCSC Ensembl
Inner	chr12:48516809..48517440	hg38	UCSC Ensembl
Outer	chr12:48516800..48517449	hg38	UCSC Ensembl
	chr12:48910587..48911227	hg19	UCSC Ensembl
Inner	chr12:48910592..48911223	hg19	UCSC Ensembl
Outer	chr12:48910583..48911232	hg19	UCSC Ensembl

Cytoband

12q13.11

Allele length

Assembly	Allele length
hg38	641
hg19	641

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14476316, essv14476255, essv14476350, essv14476253, essv14476319, essv14476260, essv14476327, essv14476342, essv14476294, essv14476356, essv14476283, essv14476313, essv14476271, essv14476272, essv14476282, essv14476349, essv14476306, essv14476357, essv14476322, essv14476335, essv14476321, essv14476345, essv14476352, essv14476274, essv14476307, essv14476355, essv14476334, essv14476286, essv14476280, essv14476314, essv14476285, essv14476276, essv14476348, essv14476318, essv14476343, essv14476288, essv14476291, essv14476245, essv14476297, essv14476337, essv14476290, essv14476354, essv14476244, essv14476346, essv14476241, essv14476341, essv14476338, essv14476268, essv14476339, essv14476315, essv14476344, essv14476267, essv14476296, essv14476326, essv14476277, essv14476347, essv14476249, essv14476252, essv14476261, essv14476278, essv14476308, essv14476284, essv14476259, essv14476331, essv14476302, essv14476340, essv14476281, essv14476247, essv14476251, essv14476301, essv14476289, essv14476320, essv14476279, essv14476336, essv14476273, essv14476264, essv14476263, essv14476328, essv14476353, essv14476298, essv14476254, essv14476256, essv14476265, essv14476317, essv14476351, essv14476323, essv14476275, essv14476332, essv14476325, essv14476304, essv14476287, essv14476292, essv14476257, essv14476300, essv14476242, essv14476312, essv14476243, essv14476269, essv14476266, essv14476250, essv14476246, essv14476330, essv14476295, essv14476324, essv14476248, essv14476293, essv14476309, essv14476258, essv14476305, essv14476311, essv14476310, essv14476303, essv14476329, essv14476270, essv14476262, essv14476333, essv14476299

Samples

HG01746, HG04096, HG00143, HG00231, HG00142, HG01610, NA10851, HG02298, NA12414, HG01537, NA11933, NA11931, HG02231, HG01970, NA20512, HG03229, HG01140, NA20814, HG00641, HG00138, HG01325, HG00356, HG01070, NA20589, HG03808, HG01064, NA19723, HG01766, NA12348, HG01528, HG01083, HG04070, NA20541, NA12761, HG00130, NA20539, HG01398, HG00236, HG00232, HG03888, HG01284, HG01525, HG00159, NA20533, NA20755, HG01312, HG01699, NA20818, NA10847, HG01139, HG00149, HG02265, HG01360, HG00266, HG02345, HG02142, HG01104, HG02697, HG01162, HG00368, HG01088, HG00132, NA19663, HG03491, NA20832, HG01675, HG02221, HG02789, HG01447, HG01777, HG01619, NA20299, NA20901, HG01536, NA19750, HG01130, HG01334, HG03914, HG01680, HG01625, HG01530, HG03833, HG02223, NA12775, HG02010, HG00366, NA07051, HG01977, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, HG01113, HG00116, NA20803, HG00256, NA12347, HG01785, HG00381, NA12749, HG01781, HG01251, HG00274, HG00252, NA20503, HG01617, HG01756, HG01082, NA07000, HG01112, HG00554, HG02006, HG01695, HG01437, NA20511

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3629438

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	117
Observed Complex	0
Frequency	n/a