Variant Details

Variant: esv3630880

Internal ID

7017694

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:118009251..118010696	hg38	UCSC Ensembl
Inner	chr12:118009398..118010585	hg38	UCSC Ensembl
Outer	chr12:118008995..118010952	hg38	UCSC Ensembl
	chr12:118447056..118448501	hg19	UCSC Ensembl
Inner	chr12:118447203..118448390	hg19	UCSC Ensembl
Outer	chr12:118446800..118448757	hg19	UCSC Ensembl

Cytoband

12q24.23

Allele length

Assembly	Allele length
hg38	1446
hg19	1446

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14615434, essv14615452, essv14615458, essv14615470, essv14615423, essv14615459, essv14615446, essv14615477, essv14615421, essv14615392, essv14615468, essv14615442, essv14615405, essv14615474, essv14615413, essv14615448, essv14615408, essv14615419, essv14615430, essv14615445, essv14615454, essv14615416, essv14615480, essv14615461, essv14615453, essv14615414, essv14615467, essv14615418, essv14615402, essv14615396, essv14615466, essv14615473, essv14615426, essv14615407, essv14615399, essv14615440, essv14615411, essv14615444, essv14615409, essv14615401, essv14615464, essv14615484, essv14615478, essv14615424, essv14615431, essv14615415, essv14615432, essv14615447, essv14615436, essv14615391, essv14615481, essv14615427, essv14615425, essv14615394, essv14615475, essv14615428, essv14615390, essv14615395, essv14615463, essv14615420, essv14615479, essv14615422, essv14615472, essv14615417, essv14615449, essv14615404, essv14615465, essv14615397, essv14615476, essv14615450, essv14615469, essv14615393, essv14615462, essv14615398, essv14615429, essv14615451, essv14615441, essv14615483, essv14615400, essv14615435, essv14615456, essv14615433, essv14615437, essv14615412, essv14615471, essv14615438, essv14615457, essv14615403, essv14615460, essv14615443, essv14615439, essv14615410, essv14615482, essv14615455, essv14615406

Samples

NA20339, HG02944, HG03121, HG02583, NA18861, HG02702, HG03111, NA18877, HG03130, NA19819, NA19393, HG03295, NA19377, HG02536, NA18870, NA19446, NA19201, HG02810, NA18923, NA19198, HG02620, HG02860, NA18916, HG03105, NA19130, HG02981, HG02281, NA19922, HG03520, HG03556, NA19137, HG02588, HG02571, HG03380, NA18864, HG03058, NA18908, HG03114, HG02715, NA19200, HG01164, HG02716, HG02820, HG02570, NA19462, HG01095, HG02449, NA19455, HG01989, NA18871, HG02968, HG02497, NA20770, HG02537, HG03123, HG03472, NA19114, NA18879, NA18856, NA18912, HG03354, HG02332, HG02568, HG02484, NA19436, NA20296, HG02813, HG02557, NA19256, HG03437, HG02759, NA19473, HG03117, HG01958, NA20351, HG02611, NA18865, HG02941, HG02839, HG02580, HG02317, HG03039, HG02095, HG03442, HG03097, NA19779, HG03313, HG03049, HG03351, HG02676, NA19900, HG02051, HG02851, HG03118, NA19429

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3630880

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	95
Observed Complex	0
Frequency	n/a