A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3310454

Internal ID

14810719

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:110310156..110310156	hg38	UCSC Ensembl
Outer	chr1:110310156..110310156	hg38	UCSC Ensembl
Inner	chr1:110852778..110852778	hg19	UCSC Ensembl
Outer	chr1:110852778..110852778	hg19	UCSC Ensembl
Inner	chr1:110654301..110654301	hg18	UCSC Ensembl
Outer	chr1:110654301..110654301	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	80
hg19	80
hg18	80

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 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