Variant Details

Variant: esv3647582

Internal ID

7034322

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:31378917..31386942	hg38	UCSC Ensembl
Inner	chr22:31378923..31386936	hg38	UCSC Ensembl
Outer	chr22:31378911..31386948	hg38	UCSC Ensembl
	chr22:31774903..31782928	hg19	UCSC Ensembl
Inner	chr22:31774909..31782922	hg19	UCSC Ensembl
Outer	chr22:31774897..31782934	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	8026
hg19	8026

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16403158, essv16403192, essv16403197, essv16403108, essv16403130, essv16403187, essv16403102, essv16403200, essv16403133, essv16403095, essv16403110, essv16403129, essv16403138, essv16403203, essv16403127, essv16403118, essv16403105, essv16403113, essv16403170, essv16403137, essv16403186, essv16403123, essv16403119, essv16403174, essv16403125, essv16403193, essv16403103, essv16403206, essv16403106, essv16403135, essv16403139, essv16403082, essv16403114, essv16403195, essv16403151, essv16403150, essv16403101, essv16403124, essv16403142, essv16403160, essv16403083, essv16403184, essv16403093, essv16403099, essv16403112, essv16403087, essv16403201, essv16403115, essv16403148, essv16403091, essv16403117, essv16403163, essv16403180, essv16403116, essv16403189, essv16403085, essv16403171, essv16403208, essv16403210, essv16403132, essv16403185, essv16403121, essv16403205, essv16403147, essv16403156, essv16403173, essv16403092, essv16403090, essv16403159, essv16403176, essv16403182, essv16403164, essv16403088, essv16403131, essv16403144, essv16403111, essv16403146, essv16403172, essv16403207, essv16403190, essv16403155, essv16403122, essv16403140, essv16403198, essv16403188, essv16403081, essv16403084, essv16403191, essv16403120, essv16403089, essv16403161, essv16403175, essv16403134, essv16403177, essv16403178, essv16403107, essv16403169, essv16403167, essv16403179, essv16403143, essv16403168, essv16403098, essv16403145, essv16403128, essv16403166, essv16403094, essv16403162, essv16403086, essv16403100, essv16403194, essv16403141, essv16403154, essv16403157, essv16403209, essv16403153, essv16403183, essv16403136, essv16403202, essv16403204, essv16403199, essv16403096, essv16403149, essv16403196, essv16403109, essv16403104, essv16403097, essv16403165, essv16403152, essv16403126, essv16403181

Samples

HG03773, HG01850, HG00650, HG03857, HG00592, HG02250, HG03731, NA18592, HG01855, HG02727, HG04094, NA18545, NA18596, HG03772, NA21115, HG00449, HG00654, HG03999, NA18967, HG03837, HG00622, NA18563, HG02016, HG03640, HG04022, HG00689, HG03976, HG02085, HG01816, HG02655, HG02374, NA18642, HG01848, HG00451, NA19923, HG00632, HG02067, HG03746, HG01673, NA19087, NA20889, HG02073, HG01844, NA18557, HG01626, NA18640, HG00419, NA18539, HG00464, NA21106, HG02166, NA18747, NA18613, NA19082, NA18525, HG02070, HG01871, HG02075, HG03907, HG04062, HG03760, NA20760, HG02076, NA20895, HG02731, HG03711, HG02144, NA18637, HG00500, HG04019, HG01880, NA18976, HG04177, NA18981, NA19064, NA20866, HG03858, NA18532, HG03643, HG04017, HG04063, HG03745, HG00704, HG02031, HG04118, HG03774, NA18541, HG03694, NA18646, HG03653, HG01812, NA18632, NA19440, HG03809, NA18564, NA19072, NA18950, HG03949, HG02355, HG03695, HG03850, HG03488, HG00607, NA18615, HG03703, HG02181, HG02133, HG00672, HG00614, HG00513, HG04015, HG02970, HG01028, NA18987, HG03863, HG02079, HG01846, NA18994, HG03916, HG02681, HG01794, NA18957, NA19004, HG04056, HG04161, HG03890, NA18612, HG03698, NA18620, HG03989

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647582

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	130
Observed Complex	0
Frequency	n/a