Variant Details

Variant: esv3634804

Internal ID

6674918

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:67536095..67537567	hg38	UCSC Ensembl
Inner	chr14:67536245..67537417	hg38	UCSC Ensembl
Outer	chr14:67535945..67537717	hg38	UCSC Ensembl
	chr14:68002812..68004284	hg19	UCSC Ensembl
Inner	chr14:68002962..68004134	hg19	UCSC Ensembl
Outer	chr14:68002662..68004434	hg19	UCSC Ensembl

Cytoband

14q24.1

Allele length

Assembly	Allele length
hg38	1473
hg19	1473

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15046226, essv15046190, essv15046218, essv15046228, essv15046188, essv15046191, essv15046202, essv15046197, essv15046199, essv15046233, essv15046189, essv15046196, essv15046217, essv15046222, essv15046198, essv15046220, essv15046206, essv15046219, essv15046215, essv15046209, essv15046213, essv15046203, essv15046192, essv15046210, essv15046214, essv15046193, essv15046200, essv15046230, essv15046201, essv15046229, essv15046211, essv15046208, essv15046194, essv15046224, essv15046225, essv15046195, essv15046204, essv15046227, essv15046216, essv15046187, essv15046234, essv15046231, essv15046223, essv15046207, essv15046212, essv15046221, essv15046232, essv15046205

Samples

HG02944, NA19703, HG01462, NA20274, HG02318, HG03449, HG02419, NA19020, NA18917, HG03298, HG02476, HG03139, HG03172, HG02769, HG03436, HG03099, HG03135, NA19916, HG02645, NA19038, NA19922, NA19923, NA18874, HG01950, NA20412, HG02545, NA18864, NA18867, NA19210, NA18934, NA19152, HG02450, HG02445, HG01890, NA19625, HG03064, NA19375, NA19473, NA19331, NA19380, HG02314, NA18865, NA19310, HG02580, NA19475, NA19328, HG03313, NA19463

Known Genes

PLEKHH1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3634804

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	48
Observed Complex	0
Frequency	n/a