Variant Details

Variant: esv3628542

Internal ID

7015366

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:10568598..10570345	hg38	UCSC Ensembl
Inner	chr12:10568598..10570345	hg38	UCSC Ensembl
Outer	chr12:10568086..10570684	hg38	UCSC Ensembl
	chr12:10721197..10722944	hg19	UCSC Ensembl
Inner	chr12:10721197..10722944	hg19	UCSC Ensembl
Outer	chr12:10720685..10723283	hg19	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	1748
hg19	1748

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14376450, essv14376423, essv14376402, essv14376469, essv14376479, essv14376460, essv14376447, essv14376458, essv14376412, essv14376477, essv14376413, essv14376432, essv14376407, essv14376459, essv14376441, essv14376455, essv14376414, essv14376406, essv14376457, essv14376419, essv14376462, essv14376409, essv14376473, essv14376425, essv14376451, essv14376422, essv14376443, essv14376465, essv14376408, essv14376415, essv14376417, essv14376475, essv14376434, essv14376429, essv14376421, essv14376438, essv14376440, essv14376478, essv14376445, essv14376452, essv14376448, essv14376454, essv14376466, essv14376474, essv14376400, essv14376461, essv14376420, essv14376416, essv14376405, essv14376439, essv14376464, essv14376418, essv14376401, essv14376404, essv14376456, essv14376410, essv14376433, essv14376467, essv14376427, essv14376472, essv14376411, essv14376403, essv14376453, essv14376444, essv14376435, essv14376431, essv14376470, essv14376442, essv14376424, essv14376476, essv14376437, essv14376468, essv14376428, essv14376430, essv14376426, essv14376449, essv14376471, essv14376446, essv14376436, essv14376463

Samples

HG03514, NA19141, HG02944, HG03378, HG00671, HG03163, HG02973, NA19332, HG02360, NA20321, NA19443, NA19190, NA20359, HG03133, NA19379, NA18519, NA19315, HG01064, NA20320, HG03485, HG02549, HG02645, NA19197, HG03224, NA19038, HG02281, NA19137, HG03045, HG02588, HG02571, NA19901, HG03114, HG02477, HG02820, HG03132, HG03363, HG03061, NA19184, NA19391, HG03428, HG01989, NA18871, HG02508, HG01880, HG02537, HG02048, NA19320, HG03571, HG03971, HG03046, HG02586, HG01988, HG01956, HG03064, NA19401, HG03833, NA19834, NA19321, NA19149, NA18517, NA19712, HG02983, NA20362, NA18865, HG03469, HG03127, HG03012, HG02941, HG03419, NA19475, HG03432, HG04015, HG03442, NA19474, NA19093, HG03258, NA19096, HG02861, NA18488, NA19346

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3628542

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	80
Observed Complex	0
Frequency	n/a