Variant Details

Variant: esv3589070

Internal ID

6629361

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:229275815..229278064	hg38	UCSC Ensembl
Inner	chr1:229275818..229278062	hg38	UCSC Ensembl
Outer	chr1:229275813..229278067	hg38	UCSC Ensembl
	chr1:229411562..229413811	hg19	UCSC Ensembl
Inner	chr1:229411565..229413809	hg19	UCSC Ensembl
Outer	chr1:229411560..229413814	hg19	UCSC Ensembl

Cytoband

1q42.13

Allele length

Assembly	Allele length
hg38	2250
hg19	2250

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10315115, essv10315181, essv10315139, essv10315197, essv10315188, essv10315124, essv10315174, essv10315108, essv10315114, essv10315209, essv10315218, essv10315128, essv10315203, essv10315196, essv10315141, essv10315178, essv10315215, essv10315143, essv10315183, essv10315220, essv10315205, essv10315147, essv10315137, essv10315222, essv10315219, essv10315159, essv10315123, essv10315210, essv10315132, essv10315170, essv10315152, essv10315221, essv10315161, essv10315142, essv10315136, essv10315109, essv10315202, essv10315138, essv10315157, essv10315131, essv10315130, essv10315166, essv10315204, essv10315216, essv10315176, essv10315150, essv10315145, essv10315206, essv10315195, essv10315194, essv10315153, essv10315135, essv10315160, essv10315162, essv10315193, essv10315134, essv10315191, essv10315146, essv10315107, essv10315173, essv10315214, essv10315177, essv10315168, essv10315117, essv10315154, essv10315122, essv10315110, essv10315185, essv10315217, essv10315182, essv10315208, essv10315200, essv10315127, essv10315144, essv10315155, essv10315167, essv10315113, essv10315189, essv10315213, essv10315158, essv10315201, essv10315120, essv10315187, essv10315180, essv10315106, essv10315179, essv10315184, essv10315198, essv10315118, essv10315212, essv10315175, essv10315192, essv10315190, essv10315165, essv10315121, essv10315199, essv10315129, essv10315125, essv10315149, essv10315151, essv10315211, essv10315186, essv10315133, essv10315112, essv10315172, essv10315169, essv10315148, essv10315111, essv10315126, essv10315207, essv10315164, essv10315163, essv10315116, essv10315171, essv10315119, essv10315156, essv10315140

Samples

HG01986, HG03559, HG02890, NA19141, HG03366, HG02944, HG01402, HG03121, NA19397, NA19466, HG03548, NA19332, HG03111, HG03517, HG03717, HG03300, HG03280, NA18504, HG03297, NA20346, HG03172, HG02888, HG02589, HG03069, HG02621, HG02811, HG03099, HG03452, HG03499, NA19448, HG02541, NA18923, NA20317, HG03485, HG03224, NA19384, NA19038, HG02281, HG02562, HG03556, HG02573, NA19917, NA19137, HG02885, HG01369, NA19235, NA19172, NA20412, NA19901, HG03380, HG02946, HG03267, HG03073, NA19209, HG03394, HG02715, HG03369, NA19200, HG02819, HG03120, NA19707, NA19462, NA19152, HG02678, NA19184, HG02108, NA19236, HG02953, HG02470, HG02537, NA18907, HG03311, HG03123, NA19118, HG03202, HG03388, HG03078, HG02309, HG03571, HG03451, HG02256, HG02586, HG02896, HG02568, HG01990, HG01204, HG02613, NA19206, HG03028, NA19309, HG02807, HG02667, HG03240, NA19321, NA19147, HG02501, HG02721, HG03458, HG02314, HG03304, NA20281, HG03108, NA19328, HG03565, HG02971, HG02974, HG03157, NA19468, HG03279, NA20289, HG03538, HG03445, NA18505, HG02351, HG02629, NA19153, HG03196

Known Genes

RAB4A

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3589070

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	117
Observed Complex	0
Frequency	n/a