Variant Details

Variant: esv3641623

Internal ID

6681708

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr18:4330218..4335636	hg38	UCSC Ensembl
Inner	chr18:4330218..4335636	hg38	UCSC Ensembl
Outer	chr18:4329966..4335894	hg38	UCSC Ensembl
	chr18:4330218..4335636	hg19	UCSC Ensembl
Inner	chr18:4330218..4335636	hg19	UCSC Ensembl
Outer	chr18:4329966..4335894	hg19	UCSC Ensembl

Cytoband

18p11.31

Allele length

Assembly	Allele length
hg38	5419
hg19	5419

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15780485, essv15780478, essv15780484, essv15780460, essv15780486, essv15780468, essv15780467, essv15780489, essv15780458, essv15780488, essv15780495, essv15780459, essv15780461, essv15780497, essv15780476, essv15780473, essv15780477, essv15780464, essv15780471, essv15780498, essv15780470, essv15780482, essv15780455, essv15780472, essv15780494, essv15780462, essv15780493, essv15780466, essv15780483, essv15780474, essv15780499, essv15780496, essv15780492, essv15780456, essv15780463, essv15780469, essv15780465, essv15780491, essv15780480, essv15780490, essv15780475, essv15780457, essv15780454, essv15780479, essv15780487, essv15780481

Samples

HG03559, HG02836, NA19350, NA20321, HG02870, HG03455, NA18504, HG03577, HG03478, HG03074, HG03086, HG03168, HG02810, HG02595, NA19916, HG02860, HG02854, HG03209, HG02703, HG03054, HG03088, HG03457, NA19788, NA20126, HG02508, HG03124, HG02283, HG03024, NA19257, NA18858, HG03109, HG02722, NA19401, HG02330, NA19712, HG02546, NA19835, HG02974, HG02095, NA19223, HG03025, NA19213, NA18511, HG02284, NA18522, HG03129

Known Genes

DLGAP1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3641623

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	46
Observed Complex	0
Frequency	n/a