Variant Details

Variant: esv3585013

Internal ID

6625332

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:1695226..1749609	hg38	UCSC Ensembl
Inner	chr1:1695726..1749109	hg38	UCSC Ensembl
Outer	chr1:1694226..1750609	hg38	UCSC Ensembl
	chr1:1626665..1681048	hg19	UCSC Ensembl
Inner	chr1:1627165..1680548	hg19	UCSC Ensembl
Outer	chr1:1625665..1682048	hg19	UCSC Ensembl

Cytoband

1p36.33

Allele length

Assembly	Allele length
hg38	54384
hg19	54384

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv2e214

Supporting Variants

essv9841151, essv9841093, essv9841178, essv9841117, essv9841126, essv9841115, essv9841119, essv9841147, essv9841111, essv9841110, essv9841185, essv9841188, essv9841080, essv9841150, essv9841106, essv9841170, essv9841138, essv9841095, essv9841181, essv9841118, essv9841107, essv9841135, essv9841074, essv9841128, essv9841099, essv9841140, essv9841175, essv9841085, essv9841100, essv9841098, essv9841092, essv9841082, essv9841078, essv9841167, essv9841081, essv9841123, essv9841089, essv9841125, essv9841142, essv9841120, essv9841179, essv9841130, essv9841108, essv9841166, essv9841162, essv9841134, essv9841144, essv9841161, essv9841152, essv9841101, essv9841172, essv9841094, essv9841136, essv9841121, essv9841096, essv9841131, essv9841177, essv9841165, essv9841122, essv9841154, essv9841149, essv9841146, essv9841186, essv9841075, essv9841133, essv9841156, essv9841084, essv9841143, essv9841076, essv9841155, essv9841176, essv9841163, essv9841182, essv9841116, essv9841072, essv9841141, essv9841091, essv9841087, essv9841113, essv9841086, essv9841180, essv9841153, essv9841164, essv9841174, essv9841187, essv9841137, essv9841105, essv9841160, essv9841083, essv9841171, essv9841148, essv9841109, essv9841104, essv9841071, essv9841158, essv9841184, essv9841129, essv9841132, essv9841102, essv9841173, essv9841124, essv9841139, essv9841114, essv9841077, essv9841169, essv9841168, essv9841145, essv9841097, essv9841073, essv9841127, essv9841090, essv9841112, essv9841157, essv9841088, essv9841183, essv9841159, essv9841079, essv9841103

Samples

HG03800, NA21097, NA20877, NA18647, HG03052, HG04229, HG02026, HG02433, HG01188, HG01066, NA20512, HG01531, HG00452, NA19777, NA18596, NA18504, NA19443, NA12750, HG01500, NA19792, NA21135, HG03099, HG03757, HG02952, HG01064, HG01277, HG03976, HG03765, HG03370, HG00610, HG04131, HG01393, HG01242, HG03803, NA20518, HG02490, NA21109, HG01170, NA20896, HG01757, HG01281, HG03696, HG02073, HG01709, HG00178, HG00253, HG00365, HG02134, NA18645, HG01784, HG01501, HG01122, HG00557, NA20505, HG02057, HG04195, HG04107, HG03945, NA12718, HG02728, HG02165, NA18976, HG01852, HG03781, HG01889, NA21116, HG03823, HG03967, HG00284, HG00250, HG03858, HG00479, NA20581, HG02309, HG04063, HG02601, NA12144, HG01403, HG03752, HG02330, NA18632, HG00155, NA19309, HG02282, HG04227, HG04026, HG03899, HG03692, HG03117, HG01396, NA19144, HG01375, NA20902, HG04099, HG01798, HG03681, HG02558, HG03103, HG02700, HG00259, NA20847, HG03646, NA21090, HG03097, NA20849, NA21102, HG02053, HG02239, HG03470, HG01431, NA18957, NA12006, HG01191, NA19346, HG00362, HG02060, HG00581, NA18620

Known Genes

CDK11A, CDK11B, MMP23A, SLC35E2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585013

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	118
Observed Complex	0
Frequency	n/a