Variant Details

Variant: esv3587495

Internal ID

6974918

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:149793565..149796179	hg38	UCSC Ensembl
Inner	chr1:149793571..149796174	hg38	UCSC Ensembl
Outer	chr1:149793560..149796185	hg38	UCSC Ensembl
	chr1:149765121..149767735	hg19	UCSC Ensembl
Inner	chr1:149765127..149767730	hg19	UCSC Ensembl
Outer	chr1:149765116..149767741	hg19	UCSC Ensembl

Cytoband

1q21.2

Allele length

Assembly	Allele length
hg38	2615
hg19	2615

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10141762, essv10141744, essv10141732, essv10141766, essv10141769, essv10141752, essv10141733, essv10141734, essv10141758, essv10141748, essv10141768, essv10141747, essv10141739, essv10141731, essv10141760, essv10141765, essv10141759, essv10141738, essv10141736, essv10141729, essv10141756, essv10141755, essv10141740, essv10141750, essv10141751, essv10141771, essv10141767, essv10141773, essv10141770, essv10141741, essv10141728, essv10141763, essv10141737, essv10141746, essv10141749, essv10141727, essv10141753, essv10141745, essv10141735, essv10141742, essv10141761, essv10141743, essv10141730, essv10141774, essv10141764, essv10141757, essv10141772, essv10141754

Samples

NA18502, HG02339, HG02944, HG03163, NA19378, HG02337, HG02318, HG03190, HG02769, HG03199, NA19171, HG02621, HG02952, HG03370, HG03246, HG01365, NA19384, HG02816, NA19235, HG02420, NA19026, HG02882, HG01124, NA19403, HG02511, HG02554, NA18871, HG02968, HG03123, HG03382, NA19099, HG03391, HG02979, HG01890, NA19401, HG02759, NA19712, NA19835, HG02982, NA19467, NA19360, HG03557, HG03039, NA19468, NA19093, HG02013, HG03077, NA19429

Known Genes

HIST2H2BF

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3587495

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	48
Observed Complex	0
Frequency	n/a