A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3370098

Internal ID

15217074

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:60419559..60419559	hg38	UCSC Ensembl
Inner	chr14:60419558..60419560	hg38	UCSC Ensembl
Outer	chr14:60419499..60419609	hg38	UCSC Ensembl
	chr14:60886277..60886277	hg19	UCSC Ensembl
Inner	chr14:60886276..60886278	hg19	UCSC Ensembl
Outer	chr14:60886217..60886327	hg19	UCSC Ensembl
	chr14:59956030..59956030	hg18	UCSC Ensembl
Inner	chr14:59956031..59956029	hg18	UCSC Ensembl
Outer	chr14:59955970..59956080	hg18	UCSC Ensembl

Cytoband

14q23.1

Allele length

Assembly	Allele length
hg38	60
hg19	60
hg18	60

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

Samples

NA12878

Known Genes

Method

Sequencing

Analysis

Platform

454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

Accession Number(s)

Frequency

Sample Size	185
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a