A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3891004

Internal ID

19185400

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196787170..196927958	hg38	UCSC Ensembl
Outer	chr1:196748507..196932623	hg38	UCSC Ensembl
Inner	chr1:196756300..196897088	hg19	UCSC Ensembl
Outer	chr1:196717637..196901753	hg19	UCSC Ensembl
Inner	chr1:195022923..195163711	hg18	UCSC Ensembl
Outer	chr1:194984260..195168376	hg18	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	184117
hg19	184117
hg18	184117

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25789867, essv25798712, essv25790283, essv25799147, essv25779955, essv25791045, essv25798863, essv25789355

Samples

Known Genes

CFHR1, CFHR3, CFHR4

Method

SNP array

Analysis

Platform

Illumina HumanHap 610

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	4
Observed Loss	4
Observed Complex	0
Frequency	n/a