Variant Details

Variant: esv3600594

Internal ID

6987636

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr4:56894981..56895944	hg38	UCSC Ensembl
Inner	chr4:56895000..56895925	hg38	UCSC Ensembl
Outer	chr4:56894962..56895963	hg38	UCSC Ensembl
	chr4:57761147..57762110	hg19	UCSC Ensembl
Inner	chr4:57761166..57762091	hg19	UCSC Ensembl
Outer	chr4:57761128..57762129	hg19	UCSC Ensembl

Cytoband

4q12

Allele length

Assembly	Allele length
hg38	964
hg19	964

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv11443207, essv11443225, essv11443236, essv11443249, essv11443208, essv11443212, essv11443245, essv11443213, essv11443244, essv11443205, essv11443226, essv11443239, essv11443217, essv11443224, essv11443233, essv11443214, essv11443241, essv11443230, essv11443248, essv11443218, essv11443237, essv11443206, essv11443227, essv11443228, essv11443219, essv11443240, essv11443220, essv11443215, essv11443221, essv11443211, essv11443246, essv11443247, essv11443209, essv11443238, essv11443229, essv11443242, essv11443204, essv11443235, essv11443223, essv11443232, essv11443222, essv11443210, essv11443216, essv11443231, essv11443243, essv11443234

Samples

HG02339, HG03593, HG01412, HG01054, HG01624, HG03821, HG03607, HG00640, HG00103, HG00261, HG01350, HG03913, HG02301, HG03629, HG03830, NA12005, HG01281, NA20764, HG01550, HG00188, HG04146, HG01595, HG00368, NA20895, HG03805, HG01630, HG03660, HG00373, NA12829, HG03634, HG00146, HG02256, HG01625, HG03238, HG00119, HG04006, NA21144, NA07037, NA20847, HG00329, NA12830, HG00186, HG01112, HG01618, HG01747, HG01516

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3600594

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	46
Observed Complex	0
Frequency	n/a