Variant Details

Variant: esv3598926

Internal ID

6985974

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:183548743..183549156	hg38	UCSC Ensembl
Inner	chr3:183548744..183549156	hg38	UCSC Ensembl
Outer	chr3:183548743..183549157	hg38	UCSC Ensembl
	chr3:183266531..183266944	hg19	UCSC Ensembl
Inner	chr3:183266532..183266944	hg19	UCSC Ensembl
Outer	chr3:183266531..183266945	hg19	UCSC Ensembl

Cytoband

3q27.1

Allele length

Assembly	Allele length
hg38	414
hg19	414

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv11253076, essv11253032, essv11253091, essv11253057, essv11253077, essv11253023, essv11253030, essv11253092, essv11253063, essv11253089, essv11253094, essv11253047, essv11253081, essv11253034, essv11253040, essv11253064, essv11253042, essv11253088, essv11253025, essv11253065, essv11253078, essv11253027, essv11253060, essv11253069, essv11253031, essv11253087, essv11253097, essv11253054, essv11253028, essv11253038, essv11253041, essv11253052, essv11253033, essv11253055, essv11253075, essv11253026, essv11253079, essv11253090, essv11253058, essv11253050, essv11253061, essv11253021, essv11253096, essv11253036, essv11253086, essv11253095, essv11253067, essv11253098, essv11253073, essv11253019, essv11253085, essv11253022, essv11253071, essv11253044, essv11253083, essv11253043, essv11253068, essv11253056, essv11253046, essv11253070, essv11253049, essv11253048, essv11253051, essv11253084, essv11253080, essv11253072, essv11253039, essv11253037, essv11253093, essv11253035, essv11253045, essv11253082, essv11253024, essv11253066, essv11253053, essv11253020, essv11253074, essv11253062, essv11253059, essv11253029

Samples

HG02614, HG03096, NA18924, HG02481, HG03548, HG03052, HG03163, HG01885, HG02702, HG02323, NA20298, HG03515, NA20356, HG02895, HG02769, NA19107, HG03074, NA19379, HG03452, HG03499, HG02645, HG03578, NA19138, HG02562, NA19041, HG03556, HG02315, HG01170, NA18868, HG02461, NA20340, HG02885, HG02588, NA19159, NA19026, HG02571, HG02502, HG03583, HG03369, NA19451, HG02479, HG02090, NA19347, HG02449, HG01882, HG03457, HG02953, HG01889, HG02429, NA19042, NA18499, HG03571, HG03024, NA19338, NA19035, HG02772, HG01444, NA19206, NA19108, NA19256, HG03117, HG01958, NA20362, NA19439, HG01342, HG02558, HG02771, NA19323, NA19248, HG01912, NA19472, HG02107, HG03258, NA19900, HG02051, NA19316, HG01886, HG02643, HG03129, NA19346

Known Genes

KLHL6

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3598926

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	80
Observed Complex	0
Frequency	n/a