Variant Details

Variant: esv3606919

Internal ID

6993854

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:138196799..138197710	hg38	UCSC Ensembl
Inner	chr5:138196809..138197700	hg38	UCSC Ensembl
Outer	chr5:138196789..138197720	hg38	UCSC Ensembl
	chr5:137532488..137533399	hg19	UCSC Ensembl
Inner	chr5:137532498..137533389	hg19	UCSC Ensembl
Outer	chr5:137532478..137533409	hg19	UCSC Ensembl

Cytoband

5q31.2

Allele length

Assembly	Allele length
hg38	912
hg19	912

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv12075721, essv12075724, essv12075725, essv12075769, essv12075795, essv12075798, essv12075759, essv12075726, essv12075727, essv12075804, essv12075752, essv12075740, essv12075754, essv12075761, essv12075777, essv12075767, essv12075720, essv12075771, essv12075741, essv12075755, essv12075772, essv12075796, essv12075710, essv12075756, essv12075730, essv12075728, essv12075765, essv12075785, essv12075707, essv12075768, essv12075711, essv12075778, essv12075718, essv12075709, essv12075787, essv12075729, essv12075766, essv12075789, essv12075805, essv12075717, essv12075806, essv12075788, essv12075801, essv12075749, essv12075742, essv12075712, essv12075735, essv12075773, essv12075802, essv12075786, essv12075750, essv12075783, essv12075751, essv12075746, essv12075713, essv12075731, essv12075800, essv12075763, essv12075776, essv12075797, essv12075748, essv12075732, essv12075790, essv12075747, essv12075764, essv12075762, essv12075770, essv12075782, essv12075799, essv12075734, essv12075745, essv12075784, essv12075794, essv12075736, essv12075708, essv12075753, essv12075739, essv12075793, essv12075774, essv12075737, essv12075758, essv12075803, essv12075714, essv12075781, essv12075775, essv12075723, essv12075780, essv12075719, essv12075792, essv12075791, essv12075722, essv12075760, essv12075738, essv12075706, essv12075716, essv12075757, essv12075779, essv12075715, essv12075744, essv12075743, essv12075733

Samples

HG01054, HG03378, NA18508, HG03175, HG03517, HG03300, NA18877, HG03558, HG03115, HG02891, NA19350, NA19393, NA19777, HG01947, NA19443, NA19190, NA20356, HG02895, HG02769, NA19374, HG03082, NA18519, HG03086, HG02811, NA19315, HG02810, NA19307, HG03091, HG02541, NA18923, HG02840, NA19198, NA19131, HG02816, NA20291, HG03079, HG02281, HG03209, HG03520, HG03189, NA19917, HG02461, NA19036, HG02571, NA20412, HG02623, HG02882, HG03048, NA19707, HG03088, HG02582, NA19462, NA19984, NA19327, NA19455, HG02322, NA19982, HG02450, NA18871, HG02555, NA19461, NA19114, HG03382, HG02577, HG03446, HG02884, HG02881, HG03391, HG02666, HG02896, NA19017, HG02330, HG01444, HG03028, NA19309, NA19390, HG03367, NA19019, NA20362, NA18865, NA19835, HG02580, HG02317, HG03419, HG03565, HG03432, NA19248, HG03442, NA19438, HG02970, HG03097, NA19474, HG03258, HG03410, HG03077, HG01914, HG01883, HG02861, NA18505, NA19316, HG03271

Known Genes

CDC23

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3606919

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	101
Observed Complex	0
Frequency	n/a