Variant Details

Variant: esv3639815

Internal ID

6679905

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:5435796..5436794	hg38	UCSC Ensembl
Inner	chr17:5435798..5436792	hg38	UCSC Ensembl
Outer	chr17:5435794..5436796	hg38	UCSC Ensembl
	chr17:5339116..5340114	hg19	UCSC Ensembl
Inner	chr17:5339118..5340112	hg19	UCSC Ensembl
Outer	chr17:5339114..5340116	hg19	UCSC Ensembl

Cytoband

17p13.2

Allele length

Assembly	Allele length
hg38	999
hg19	999

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15600018, essv15600033, essv15599997, essv15599977, essv15599975, essv15599969, essv15599964, essv15599998, essv15600036, essv15599991, essv15599981, essv15599963, essv15599962, essv15600038, essv15599986, essv15599996, essv15599982, essv15599966, essv15599999, essv15599968, essv15599958, essv15600012, essv15600028, essv15600010, essv15600015, essv15599972, essv15600003, essv15599956, essv15600002, essv15599989, essv15600009, essv15600029, essv15600013, essv15600030, essv15599980, essv15600032, essv15600021, essv15600011, essv15600001, essv15599990, essv15600006, essv15600017, essv15599952, essv15600007, essv15600008, essv15599970, essv15599974, essv15599987, essv15600000, essv15600031, essv15600026, essv15599976, essv15600014, essv15599984, essv15599971, essv15599985, essv15600034, essv15599979, essv15600022, essv15599973, essv15600019, essv15599957, essv15599993, essv15599961, essv15599954, essv15600016, essv15600027, essv15600023, essv15600024, essv15599978, essv15599965, essv15600035, essv15599953, essv15599955, essv15600037, essv15599988, essv15600005, essv15600025, essv15599967, essv15599992, essv15600004, essv15599983, essv15599995, essv15599960, essv15600020, essv15599959, essv15599994

Samples

NA18508, HG02702, HG03175, NA20274, HG01389, NA19092, NA19819, HG03100, HG02624, NA18870, HG02895, NA18510, HG03074, NA18519, HG03385, HG02485, HG01599, HG02860, HG03105, NA20287, HG03040, HG02281, HG02562, HG03520, HG02573, NA18868, NA19917, HG03045, HG02885, HG02642, NA19317, HG02427, HG03394, HG02715, HG03369, HG03270, HG03048, HG02716, NA19437, HG02334, HG02582, HG02511, HG02449, NA19327, HG01882, NA19913, HG02887, HG03563, NA20299, HG02881, NA19338, HG02256, NA19095, HG02586, HG02896, NA19035, NA19017, HG02330, HG03461, NA18517, NA19434, HG02983, HG01894, HG02837, NA18865, HG03259, NA19467, NA19360, HG02814, HG02558, HG03084, NA20357, HG03039, HG03157, HG02970, NA19472, HG03025, HG02646, NA19185, HG02679, HG02013, HG03538, NA19121, HG02855, NA19312, HG02851, NA19429

Known Genes

C1QBP

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3639815

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	87
Observed Complex	0
Frequency	n/a