A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3310508

Internal ID

15157459

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:144356291..144356291	hg38	UCSC Ensembl
Outer	chr8:144356291..144356291	hg38	UCSC Ensembl
Inner	chr8:145579951..145579951	hg19	UCSC Ensembl
Outer	chr8:145579951..145579951	hg19	UCSC Ensembl
Inner	chr8:145550759..145550759	hg18	UCSC Ensembl
Outer	chr8:145550759..145550759	hg18	UCSC Ensembl

Cytoband

8q24.3

Allele length

Assembly	Allele length
hg38	60
hg19	60
hg18	60

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