Variant Details

Variant: esv3594034

Internal ID

6981355

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:204652725..204654523	hg38	UCSC Ensembl
Inner	chr2:204652726..204654522	hg38	UCSC Ensembl
Outer	chr2:204652724..204654524	hg38	UCSC Ensembl
	chr2:205517448..205519246	hg19	UCSC Ensembl
Inner	chr2:205517449..205519245	hg19	UCSC Ensembl
Outer	chr2:205517447..205519247	hg19	UCSC Ensembl

Cytoband

2q33.3

Allele length

Assembly	Allele length
hg38	1799
hg19	1799

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10827598, essv10827642, essv10827657, essv10827635, essv10827619, essv10827592, essv10827581, essv10827587, essv10827564, essv10827607, essv10827610, essv10827586, essv10827614, essv10827580, essv10827623, essv10827636, essv10827626, essv10827572, essv10827579, essv10827588, essv10827667, essv10827606, essv10827612, essv10827576, essv10827628, essv10827656, essv10827602, essv10827615, essv10827633, essv10827573, essv10827567, essv10827634, essv10827674, essv10827658, essv10827625, essv10827653, essv10827640, essv10827673, essv10827650, essv10827652, essv10827649, essv10827596, essv10827638, essv10827670, essv10827639, essv10827611, essv10827597, essv10827641, essv10827616, essv10827659, essv10827630, essv10827624, essv10827609, essv10827666, essv10827651, essv10827637, essv10827669, essv10827565, essv10827591, essv10827627, essv10827578, essv10827645, essv10827648, essv10827568, essv10827654, essv10827593, essv10827632, essv10827617, essv10827584, essv10827643, essv10827603, essv10827618, essv10827664, essv10827661, essv10827575, essv10827621, essv10827655, essv10827595, essv10827600, essv10827613, essv10827622, essv10827672, essv10827620, essv10827569, essv10827629, essv10827571, essv10827599, essv10827574, essv10827604, essv10827594, essv10827582, essv10827660, essv10827608, essv10827644, essv10827562, essv10827601, essv10827563, essv10827577, essv10827589, essv10827566, essv10827647, essv10827663, essv10827671, essv10827590, essv10827585, essv10827583, essv10827665, essv10827668, essv10827662, essv10827605, essv10827631, essv10827570, essv10827646

Samples

HG02614, HG02574, HG03366, HG01054, NA19703, NA19397, HG02481, HG03548, NA18861, HG01885, NA19378, NA18881, HG02836, HG03130, HG02323, HG03280, HG02476, HG03297, HG03372, HG03572, NA19319, HG02810, HG03499, HG02952, HG01488, HG02325, NA19119, NA18923, HG02620, HG03370, NA19384, HG01110, HG02489, NA19404, HG03209, HG01134, NA19041, HG03460, NA18874, NA19317, HG02588, HG01440, HG01048, NA18908, HG03270, HG02479, HG03132, HG02334, HG01162, HG02449, NA18915, NA20506, HG02555, HG03085, HG02429, NA19118, HG03382, NA18499, HG02309, HG02283, HG03024, HG02979, HG01890, HG01403, HG02594, HG01107, HG01990, HG01896, NA20296, HG02813, NA19017, NA19401, NA19375, NA19390, NA19108, NA19149, HG02759, NA19019, HG02308, NA19454, NA19037, HG02611, HG02982, HG03127, HG02580, NA20281, HG03419, HG02814, NA20357, NA19376, NA19117, NA19438, NA19472, NA19223, NA20334, HG03063, HG03351, HG02676, HG02013, NA19096, NA18876, NA19121, NA19030, HG03162, HG02763, HG01111, NA19312, HG02805, NA18522, HG02643, HG03303, NA19214, HG03265

Known Genes

PARD3B

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3594034

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	113
Observed Complex	0
Frequency	n/a