A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3310571

Internal ID

14810836

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:40752821..40752821	hg38	UCSC Ensembl
Outer	chr4:40752821..40752821	hg38	UCSC Ensembl
Inner	chr4:40754838..40754838	hg19	UCSC Ensembl
Outer	chr4:40754838..40754838	hg19	UCSC Ensembl
Inner	chr4:40449595..40449595	hg18	UCSC Ensembl
Outer	chr4:40449595..40449595	hg18	UCSC Ensembl

Cytoband

4p14

Allele length

Assembly	Allele length
hg38	65
hg19	65
hg18	65

Variant Type

CNV novel sequence 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

Cortex reference assisted and de-novo

Platform

Roche 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