Variant Details

Variant: esv3605055

Internal ID

6992083

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:52281271..52284473	hg38	UCSC Ensembl
Inner	chr5:52281421..52284323	hg38	UCSC Ensembl
Outer	chr5:52281121..52284623	hg38	UCSC Ensembl
	chr5:51577105..51580307	hg19	UCSC Ensembl
Inner	chr5:51577255..51580157	hg19	UCSC Ensembl
Outer	chr5:51576955..51580457	hg19	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	3203
hg19	3203

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv11902663, essv11902631, essv11902658, essv11902726, essv11902732, essv11902672, essv11902620, essv11902713, essv11902691, essv11902623, essv11902673, essv11902653, essv11902701, essv11902704, essv11902636, essv11902614, essv11902696, essv11902707, essv11902720, essv11902703, essv11902622, essv11902666, essv11902671, essv11902678, essv11902624, essv11902699, essv11902670, essv11902698, essv11902715, essv11902615, essv11902638, essv11902616, essv11902694, essv11902664, essv11902642, essv11902621, essv11902706, essv11902629, essv11902734, essv11902692, essv11902733, essv11902689, essv11902651, essv11902717, essv11902680, essv11902637, essv11902619, essv11902712, essv11902676, essv11902708, essv11902675, essv11902640, essv11902668, essv11902700, essv11902626, essv11902730, essv11902686, essv11902693, essv11902662, essv11902633, essv11902719, essv11902709, essv11902702, essv11902628, essv11902731, essv11902679, essv11902711, essv11902630, essv11902721, essv11902657, essv11902705, essv11902656, essv11902646, essv11902728, essv11902714, essv11902669, essv11902729, essv11902634, essv11902641, essv11902690, essv11902643, essv11902639, essv11902710, essv11902677, essv11902660, essv11902688, essv11902683, essv11902650, essv11902652, essv11902716, essv11902645, essv11902647, essv11902644, essv11902697, essv11902725, essv11902627, essv11902723, essv11902718, essv11902654, essv11902681, essv11902632, essv11902625, essv11902613, essv11902687, essv11902661, essv11902665, essv11902685, essv11902659, essv11902635, essv11902684, essv11902667, essv11902618, essv11902682, essv11902695, essv11902674, essv11902727, essv11902655, essv11902648, essv11902617, essv11902722, essv11902724, essv11902649

Samples

HG03514, NA19028, HG03559, HG03366, NA19700, HG02496, HG02628, NA19909, HG03052, NA18861, NA19399, HG02702, HG03115, HG03280, NA20332, NA19377, HG03515, HG02536, HG01051, NA20356, HG03069, HG03478, HG03572, HG03133, HG03086, HG03385, HG03135, NA18489, NA20320, HG02325, NA19119, NA18923, HG02756, HG02620, NA19131, NA18498, NA20291, HG02981, HG02489, HG02281, HG02703, HG03189, NA18874, HG02573, HG02461, NA20340, HG03225, HG02946, NA19239, HG01709, HG03058, HG02623, HG01967, HG03270, HG02819, HG01136, HG03120, HG02820, NA19247, HG03160, HG03061, HG02334, HG02582, NA19152, NA18933, NA19984, NA19236, HG01989, HG02307, NA18871, HG02497, HG02976, HG03311, HG03563, HG02817, HG03397, NA18856, NA19113, HG03446, NA20282, HG02979, HG03046, HG01890, HG02332, HG03109, HG03028, HG02667, HG02557, NA19108, NA20276, NA19712, HG01894, HG02721, HG03458, NA19144, HG02580, HG03419, HG03108, HG03084, HG02771, NA19143, HG03565, HG03432, HG03112, HG03097, NA20334, HG02053, HG03258, HG03351, HG03538, HG03470, HG02052, HG01883, HG03445, HG01431, HG02805, HG03118, HG03303, HG03439, NA19431, HG03271, HG03196

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3605055

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	122
Observed Complex	0
Frequency	n/a