Variant Details

Variant: esv3644410

Internal ID

7031165

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr19:42788026..43058715	hg38	UCSC Ensembl
Inner	chr19:42788526..43058215	hg38	UCSC Ensembl
Outer	chr19:42787026..43059715	hg38	UCSC Ensembl
	chr19:43292178..43562867	hg19	UCSC Ensembl
Inner	chr19:43292678..43562367	hg19	UCSC Ensembl
Outer	chr19:43291178..43563867	hg19	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	270690
hg19	270690

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16056515, essv16056588, essv16056618, essv16056545, essv16056556, essv16056630, essv16056601, essv16056568, essv16056525, essv16056535, essv16056595, essv16056532, essv16056593, essv16056558, essv16056605, essv16056602, essv16056542, essv16056608, essv16056584, essv16056626, essv16056557, essv16056622, essv16056512, essv16056623, essv16056538, essv16056534, essv16056571, essv16056548, essv16056607, essv16056585, essv16056620, essv16056514, essv16056609, essv16056546, essv16056573, essv16056560, essv16056516, essv16056616, essv16056550, essv16056629, essv16056624, essv16056511, essv16056543, essv16056606, essv16056561, essv16056569, essv16056526, essv16056631, essv16056523, essv16056559, essv16056592, essv16056582, essv16056578, essv16056581, essv16056552, essv16056522, essv16056575, essv16056614, essv16056597, essv16056521, essv16056564, essv16056579, essv16056600, essv16056590, essv16056625, essv16056572, essv16056583, essv16056612, essv16056617, essv16056611, essv16056598, essv16056603, essv16056577, essv16056530, essv16056519, essv16056524, essv16056621, essv16056596, essv16056613, essv16056567, essv16056562, essv16056540, essv16056615, essv16056628, essv16056551, essv16056539, essv16056544, essv16056563, essv16056536, essv16056554, essv16056587, essv16056553, essv16056528, essv16056589, essv16056576, essv16056518, essv16056627, essv16056586, essv16056510, essv16056541, essv16056527, essv16056533, essv16056610, essv16056531, essv16056580, essv16056547, essv16056570, essv16056529, essv16056517, essv16056549, essv16056513, essv16056574, essv16056520, essv16056555, essv16056594, essv16056619, essv16056537, essv16056565, essv16056591, essv16056599, essv16056604, essv16056566

Samples

HG00114, HG01746, HG02652, NA19397, NA21089, NA20877, NA18947, NA12286, HG03965, HG01443, HG00559, NA20899, HG02231, NA20532, HG04002, HG03792, HG02040, NA20517, NA19669, NA20846, HG04059, HG03782, HG01350, HG04038, HG02185, NA20589, HG03808, HG01277, HG00599, NA18982, HG03765, HG02521, HG03673, NA12348, HG01843, HG01492, HG03246, HG01528, NA20759, HG01080, HG00632, HG00335, NA18874, HG02067, NA20775, NA18868, HG02187, NA19901, HG02780, HG04029, HG04075, HG02164, HG00675, NA12748, HG02479, HG03709, NA20854, HG03908, HG00266, HG00183, HG03685, HG01171, HG02152, HG01344, NA18956, HG03547, HG02554, HG03428, HG00584, HG00533, HG01845, HG03775, HG01796, NA18630, HG02221, HG01777, HG03301, HG02429, NA20903, HG00956, HG02649, HG00146, NA20828, HG00463, HG01936, NA18531, HG01625, NA19375, HG00258, NA21113, HG03833, NA18533, HG03809, HG02696, NA18950, NA20804, NA21123, NA18992, HG01494, HG00607, NA19679, HG03870, HG01620, HG03973, HG03779, NA20887, HG00107, NA19376, HG01861, HG01086, HG01770, HG02238, NA12749, HG04014, HG01468, HG02028, HG03611, HG03856, NA20908, HG01437, HG03886, HG03741

Known Genes

LOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3644410

Frequency

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