Variant Details

Variant: esv3594593

Internal ID

6981913

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:230012393..230014953	hg38	UCSC Ensembl
Inner	chr2:230012395..230014951	hg38	UCSC Ensembl
Outer	chr2:230012391..230014955	hg38	UCSC Ensembl
	chr2:230877109..230879669	hg19	UCSC Ensembl
Inner	chr2:230877111..230879667	hg19	UCSC Ensembl
Outer	chr2:230877107..230879671	hg19	UCSC Ensembl

Cytoband

2q36.3

Allele length

Assembly	Allele length
hg38	2561
hg19	2561

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10873438, essv10873431, essv10873449, essv10873409, essv10873415, essv10873443, essv10873444, essv10873413, essv10873447, essv10873441, essv10873410, essv10873445, essv10873419, essv10873420, essv10873435, essv10873425, essv10873433, essv10873421, essv10873446, essv10873412, essv10873426, essv10873430, essv10873434, essv10873432, essv10873414, essv10873452, essv10873418, essv10873440, essv10873437, essv10873416, essv10873451, essv10873423, essv10873439, essv10873424, essv10873408, essv10873448, essv10873450, essv10873427, essv10873429, essv10873436, essv10873428, essv10873442, essv10873411, essv10873417, essv10873422

Samples

HG01441, HG00304, NA19664, HG00358, HG00100, HG03753, HG02277, HG00364, NA12750, HG01506, HG00173, NA11992, NA07048, HG00355, HG00185, HG00277, NA19651, NA12156, HG00160, HG00637, HG00326, HG00108, NA10847, HG00349, HG00266, HG02233, HG00360, NA19663, HG01675, HG01161, HG01619, NA20581, HG01613, HG02309, NA12778, HG00246, HG01107, HG01700, NA11881, HG00278, NA20520, HG00319, NA20281, HG00125, HG01786

Known Genes

FBXO36

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3594593

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	45
Observed Complex	0
Frequency	n/a