Variant Details

Variant: esv3647540

Internal ID

6687595

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:29576049..29577283	hg38	UCSC Ensembl
Inner	chr22:29576199..29577133	hg38	UCSC Ensembl
Outer	chr22:29575899..29577433	hg38	UCSC Ensembl
	chr22:29972038..29973272	hg19	UCSC Ensembl
Inner	chr22:29972188..29973122	hg19	UCSC Ensembl
Outer	chr22:29971888..29973422	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	1235
hg19	1235

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16401222, essv16401237, essv16401125, essv16401206, essv16401221, essv16401157, essv16401233, essv16401226, essv16401208, essv16401201, essv16401120, essv16401247, essv16401196, essv16401213, essv16401163, essv16401183, essv16401245, essv16401203, essv16401240, essv16401164, essv16401204, essv16401228, essv16401243, essv16401172, essv16401242, essv16401160, essv16401132, essv16401179, essv16401195, essv16401200, essv16401209, essv16401146, essv16401136, essv16401161, essv16401168, essv16401223, essv16401220, essv16401191, essv16401150, essv16401151, essv16401187, essv16401199, essv16401122, essv16401143, essv16401180, essv16401229, essv16401148, essv16401230, essv16401244, essv16401114, essv16401119, essv16401139, essv16401227, essv16401186, essv16401144, essv16401235, essv16401137, essv16401112, essv16401212, essv16401175, essv16401214, essv16401127, essv16401116, essv16401123, essv16401162, essv16401131, essv16401246, essv16401198, essv16401224, essv16401153, essv16401156, essv16401238, essv16401192, essv16401138, essv16401232, essv16401152, essv16401130, essv16401210, essv16401174, essv16401154, essv16401165, essv16401129, essv16401117, essv16401190, essv16401216, essv16401239, essv16401189, essv16401134, essv16401184, essv16401128, essv16401231, essv16401217, essv16401118, essv16401211, essv16401121, essv16401202, essv16401142, essv16401158, essv16401124, essv16401182, essv16401177, essv16401155, essv16401159, essv16401178, essv16401176, essv16401166, essv16401197, essv16401225, essv16401149, essv16401135, essv16401126, essv16401167, essv16401133, essv16401205, essv16401145, essv16401193, essv16401113, essv16401140, essv16401141, essv16401219, essv16401241, essv16401248, essv16401215, essv16401173, essv16401236, essv16401171, essv16401181, essv16401234, essv16401194, essv16401115, essv16401185, essv16401169, essv16401188, essv16401218, essv16401170, essv16401207, essv16401147

Samples

NA19394, HG01985, HG02890, NA19222, HG02944, HG03052, HG02702, NA19378, HG02433, HG03517, NA19704, HG03057, HG02337, HG02318, HG03241, HG03449, HG02852, HG02836, NA18917, HG03558, HG03190, HG03100, NA18504, NA20332, NA20346, HG02888, NA19190, NA19098, NA20356, HG03478, HG01325, HG02621, HG02810, HG03452, NA19448, NA19307, HG02541, HG02325, NA18923, HG02840, HG02595, HG02549, HG02645, HG02054, NA19138, HG03040, HG02816, HG02922, HG02981, NA19923, HG02703, HG03189, HG03268, HG02634, HG03045, NA19024, HG02885, HG01405, HG02588, NA20412, HG03225, NA18864, HG03267, HG02623, NA18908, HG02882, HG03048, HG02479, HG02009, HG02442, HG02820, HG02570, NA19210, HG01122, HG03547, HG02449, NA19913, NA19043, NA19236, HG02953, HG02887, HG01989, HG02014, HG03027, HG02878, HG02555, HG01390, HG03123, NA20299, NA19118, NA19449, HG02817, HG02445, NA18853, HG03024, NA19099, HG03391, HG02979, HG03046, HG02666, HG01708, NA19225, HG02772, NA19017, HG02330, HG01444, HG03539, HG02501, HG02546, HG02308, HG03458, HG02837, NA19144, HG02982, NA19439, NA19428, NA20281, NA19117, NA20348, HG03112, HG02095, HG02970, NA19351, NA19468, HG02053, HG02107, NA19093, HG03063, HG02679, HG03538, HG03470, HG03401, HG02947, HG02763, NA19146, NA18488, HG02629

Known Genes

NIPSNAP1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647540

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	137
Observed Complex	0
Frequency	n/a